nsv4634764
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:117
- Description:nsv4120352 from gnomAD Structural Variants and nsv4809954 from Abel et. al 2020. 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: 125 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 125 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4634764 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 19,952,775 | 19,952,891 |
| nsv4634764 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 19,953,006 | 19,953,122 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16158395 | deletion | Curated | Curated |
| nssv16869077 | deletion | Curated | Curated |
| nssv16879054 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16158395 | Remapped | Perfect | NC_000006.12:g.199 52775_19952891del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 19,952,775 | 19,952,891 |
| nssv16869077 | Remapped | Perfect | NC_000006.12:g.199 52775_19952891del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 19,952,775 | 19,952,891 |
| nssv16879054 | Remapped | Perfect | NC_000006.12:g.199 52775_19952891del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 19,952,775 | 19,952,891 |
| nssv16158395 | Submitted genomic | NC_000006.11:g.199 53006_19953122del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 19,953,006 | 19,953,122 | ||
| nssv16869077 | Submitted genomic | NC_000006.11:g.199 53006_19953122del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 19,953,006 | 19,953,122 | ||
| nssv16879054 | Submitted genomic | NC_000006.11:g.199 53006_19953122del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 19,953,006 | 19,953,122 |
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) |
|---|---|---|---|
| nssv16158395 | 0.342 | 7410 | 21656 |
| nssv16869077 | 0.359 | 6042 | 16834 |
| nssv16879054 | 0.343 | 10043 | 29246 |