nsv4730105
- Organism: Homo sapiens
- Study:nstd198 (Hanlon et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:483,523
- Publication(s):Hanlon et al. 2021
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2027 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 2027 SVs from 100 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730105 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 28,339,079 | 28,822,601 | ||
| nsv4730105 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 28,350,400 | 28,833,922 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16256521 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
| nssv16256122 | inversion | HG00514 | Sequencing | Genotyping | Homozygous | 338 |
| nssv16257490 | inversion | HG00514 | Sequencing | Genotyping | Homozygous | 338 |
| nssv16257202 | inversion | HG00512 | Sequencing | Genotyping | Heterozygous | 328 |
| nssv16258419 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
| nssv16256862 | inversion | HG00512 | Sequencing | Genotyping | Heterozygous | 328 |
| nssv16256618 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
| nssv16256682 | inversion | HG00512 | Sequencing | Genotyping | Heterozygous | 328 |
| nssv16257462 | inversion | HG00512 | Sequencing | Genotyping | Heterozygous | 328 |
| nssv16257684 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
| nssv16257694 | inversion | HG00514 | Sequencing | Genotyping | Homozygous | 338 |
| nssv16258700 | inversion | HG00514 | Sequencing | Genotyping | Homozygous | 338 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16256521 | Submitted genomic | NC_000016.10:g.283 39079_28644714inv | GRCh38 (hg38) | NC_000016.10 | Chr16 | 28,339,079 | 28,644,714 | ||
| nssv16256122 | Submitted genomic | NC_000016.10:g.283 42684_28652009inv | GRCh38 (hg38) | NC_000016.10 | Chr16 | 28,342,684 | 28,652,009 | ||
| nssv16257490 | Submitted genomic | NC_000016.10:g.283 42684_28652009inv | GRCh38 (hg38) | NC_000016.10 | Chr16 | 28,342,684 | 28,652,009 | ||
| nssv16257202 | Submitted genomic | NC_000016.10:g.283 43932_28822601inv | GRCh38 (hg38) | NC_000016.10 | Chr16 | 28,343,932 | 28,822,601 | ||
| nssv16258419 | Submitted genomic | NC_000016.10:g.283 43932_28822601inv | GRCh38 (hg38) | NC_000016.10 | Chr16 | 28,343,932 | 28,822,601 | ||
| nssv16256862 | Submitted genomic | NC_000016.10:g.284 02329_28736286inv | GRCh38 (hg38) | NC_000016.10 | Chr16 | 28,402,329 | 28,736,286 | ||
| nssv16256618 | Submitted genomic | NC_000016.10:g.284 57770_28740547inv | GRCh38 (hg38) | NC_000016.10 | Chr16 | 28,457,770 | 28,740,547 | ||
| nssv16256682 | Submitted genomic | NC_000016.10:g.284 57770_28740547inv | GRCh38 (hg38) | NC_000016.10 | Chr16 | 28,457,770 | 28,740,547 | ||
| nssv16257462 | Submitted genomic | NC_000016.10:g.284 57770_28740547inv | GRCh38 (hg38) | NC_000016.10 | Chr16 | 28,457,770 | 28,740,547 | ||
| nssv16257684 | Submitted genomic | NC_000016.10:g.284 57770_28740547inv | GRCh38 (hg38) | NC_000016.10 | Chr16 | 28,457,770 | 28,740,547 | ||
| nssv16257694 | Submitted genomic | NC_000016.10:g.284 57770_28740547inv | GRCh38 (hg38) | NC_000016.10 | Chr16 | 28,457,770 | 28,740,547 | ||
| nssv16258700 | Submitted genomic | NC_000016.10:g.284 57770_28740547inv | GRCh38 (hg38) | NC_000016.10 | Chr16 | 28,457,770 | 28,740,547 | ||
| nssv16256521 | Remapped | Perfect | NC_000016.9:g.2835 0400_28656035inv | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 28,350,400 | 28,656,035 |
| nssv16256122 | Remapped | Perfect | NC_000016.9:g.2835 4005_28663330inv | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 28,354,005 | 28,663,330 |
| nssv16257490 | Remapped | Perfect | NC_000016.9:g.2835 4005_28663330inv | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 28,354,005 | 28,663,330 |
| nssv16257202 | Remapped | Perfect | NC_000016.9:g.2835 5253_28833922inv | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 28,355,253 | 28,833,922 |
| nssv16258419 | Remapped | Perfect | NC_000016.9:g.2835 5253_28833922inv | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 28,355,253 | 28,833,922 |
| nssv16256862 | Remapped | Perfect | NC_000016.9:g.2841 3650_28747607inv | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 28,413,650 | 28,747,607 |
| nssv16256618 | Remapped | Perfect | NC_000016.9:g.2846 9091_28751868inv | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 28,469,091 | 28,751,868 |
| nssv16256682 | Remapped | Perfect | NC_000016.9:g.2846 9091_28751868inv | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 28,469,091 | 28,751,868 |
| nssv16257462 | Remapped | Perfect | NC_000016.9:g.2846 9091_28751868inv | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 28,469,091 | 28,751,868 |
| nssv16257684 | Remapped | Perfect | NC_000016.9:g.2846 9091_28751868inv | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 28,469,091 | 28,751,868 |
| nssv16257694 | Remapped | Perfect | NC_000016.9:g.2846 9091_28751868inv | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 28,469,091 | 28,751,868 |
| nssv16258700 | Remapped | Perfect | NC_000016.9:g.2846 9091_28751868inv | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 28,469,091 | 28,751,868 |