nsv4634380
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:119
- Description:nsv4172145 from gnomAD Structural Variants and nsv4813377 from Abel et. al 2020 and nsv5479975 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 147 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4634380 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 65,399,116 | 65,399,234 |
| nsv4634380 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 66,311,351 | 66,311,469 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16172032 | deletion | Curated | Curated |
| nssv16873634 | deletion | Curated | Curated |
| nssv16878802 | deletion | Curated | Curated |
| nssv17673535 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16172032 | Remapped | Perfect | NC_000008.11:g.653 99116_65399234del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 65,399,116 | 65,399,234 |
| nssv16873634 | Remapped | Perfect | NC_000008.11:g.653 99116_65399234del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 65,399,116 | 65,399,234 |
| nssv16878802 | Remapped | Perfect | NC_000008.11:g.653 99116_65399234del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 65,399,116 | 65,399,234 |
| nssv17673535 | Remapped | Perfect | NC_000008.11:g.653 99116_65399234del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 65,399,116 | 65,399,234 |
| nssv16172032 | Submitted genomic | NC_000008.10:g.663 11351_66311469del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 66,311,351 | 66,311,469 | ||
| nssv16873634 | Submitted genomic | NC_000008.10:g.663 11351_66311469del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 66,311,351 | 66,311,469 | ||
| nssv16878802 | Submitted genomic | NC_000008.10:g.663 11351_66311469del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 66,311,351 | 66,311,469 | ||
| nssv17673535 | Submitted genomic | NC_000008.10:g.663 11351_66311469del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 66,311,351 | 66,311,469 |
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) |
|---|---|---|---|
| nssv16172032 | 0.324 | 7022 | 21694 |
| nssv16873634 | 0.374 | 6287 | 16834 |
| nssv16878802 | 0.399 | 11655 | 29246 |
| nssv17673535 | 0.035 | 215 | 6156 |