nsv4238083
- Organism: Homo sapiens
- Study:nstd166 (gnomAD Structural Variants)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:701
- Publication(s):gnomAD_Structural_Variants
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: 20 SVs from 7 studies. See in: genome view
Overlapping variant regions from other studies: 5 SVs from 3 studies. See in: genome view
Overlapping variant regions from other studies: 25 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4238083 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | Second Pass | NC_000017.11 | Chr17 | 35,928,820 | 35,929,520 |
| nsv4238083 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 163,352 | 164,052 |
| nsv4238083 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000017.10 | Chr17 | 34,255,824 | 34,256,524 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15833051 | deletion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15833051 | Remapped | Perfect | NT_187614.1:g.1633 52_164052del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 163,352 | 164,052 |
| nssv15833051 | Remapped | Perfect | NC_000017.11:g.359 28820_35929520del | GRCh38.p12 | Second Pass | NC_000017.11 | Chr17 | 35,928,820 | 35,929,520 |
| nssv15833051 | Submitted genomic | NC_000017.10:g.342 55824_34256524del | GRCh37.p13 | NC_000017.10 | Chr17 | 34,255,824 | 34,256,524 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv15833051 | <0.001 | 10 | 21694 |