nsv4635219
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:250
- Description:nsv4530158 from gnomAD Structural Variants and nsv5506521 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: 162 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4635219 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 131,856,375 | 131,856,624 |
| nsv4635219 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 132,340,920 | 132,341,169 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16164735 | deletion | Curated | Curated |
| nssv17966179 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16164735 | Remapped | Perfect | NC_000012.12:g.131 856375_131856624de l | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,856,375 | 131,856,624 |
| nssv17966179 | Remapped | Perfect | NC_000012.12:g.131 856375_131856624de l | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,856,375 | 131,856,624 |
| nssv16164735 | Submitted genomic | NC_000012.11:g.132 340920_132341169de l | GRCh37 (hg19) | NC_000012.11 | Chr12 | 132,340,920 | 132,341,169 | ||
| nssv17966179 | Submitted genomic | NC_000012.11:g.132 340920_132341169de l | GRCh37 (hg19) | NC_000012.11 | Chr12 | 132,340,920 | 132,341,169 |
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) |
|---|---|---|---|
| nssv16164735 | 0.027 | 591 | 21670 |
| nssv17966179 | 0.019 | 122 | 6404 |