nsv6303052
- 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:233
- Description:nsv5486477 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: 140 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 15 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6303052 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 144,575,235 | 144,575,467 |
| nsv6303052 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654715.1 | Chr7|NW_01 8654715.1 | 624,966 | 625,198 |
| nsv6303052 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 144,272,328 | 144,272,560 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17653364 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17653364 | Remapped | Perfect | NW_018654715.1:g.6 24966_625198del | GRCh38.p12 | Second Pass | NW_018654715.1 | Chr7|NW_01 8654715.1 | 624,966 | 625,198 |
| nssv17653364 | Remapped | Perfect | NC_000007.14:g.144 575235_144575467de l | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 144,575,235 | 144,575,467 |
| nssv17653364 | Submitted genomic | NC_000007.13:g.144 272328_144272560de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 144,272,328 | 144,272,560 |
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) |
|---|---|---|---|
| nssv17653364 | 0.305 | 1946 | 6384 |