nsv6123458
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,646
- Description:nsv5531250 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.
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: 296 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 294 SVs from 55 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6123458 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 41,046,950 | 41,055,490 |
| nsv6123458 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 196,343 | 204,988 |
| nsv6123458 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 39,203,202 | 39,211,742 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17965334 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17965334 | Remapped | Good | NW_003871091.1:g.1 96343_204988del | GRCh38.p12 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 196,343 | 204,988 |
| nssv17965334 | Remapped | Perfect | NC_000017.11:g.410 46950_41055490del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 41,046,950 | 41,055,490 |
| nssv17965334 | Submitted genomic | NC_000017.10:g.392 03202_39211742del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 39,203,202 | 39,211,742 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv17965334 | 0.017 | 112 | 6402 |