nsv6126000
- 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:310
- Description:nsv5527369 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: 292 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 15 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 292 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6126000 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 18,338,015 | 18,338,324 |
| nsv6126000 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_017363819.1 | Chr17|NW_0 17363819.1 | 98,389 | 98,698 |
| nsv6126000 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 18,241,329 | 18,241,638 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17957904 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957904 | Remapped | Perfect | NW_017363819.1:g.9 8389_98698del | GRCh38.p12 | Second Pass | NW_017363819.1 | Chr17|NW_0 17363819.1 | 98,389 | 98,698 |
| nssv17957904 | Remapped | Perfect | NC_000017.11:g.183 38015_18338324del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 18,338,015 | 18,338,324 |
| nssv17957904 | Submitted genomic | NC_000017.10:g.182 41329_18241638del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 18,241,329 | 18,241,638 |
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) |
|---|---|---|---|
| nssv17957904 | 0.014 | 91 | 6404 |