nsv4634755
- 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:1,248
- Description:nsv4168279 from gnomAD Structural Variants and nsv4951405 from Abel et. al 2020 and nsv5479653 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: 214 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 29 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 214 SVs from 45 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4634755 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 154,456,738 | 154,457,985 |
| nsv4634755 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_012132919.1 | Chr7|NW_01 2132919.1 | 34,387 | 35,634 |
| nsv4634755 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 154,153,823 | 154,155,070 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16161228 | deletion | Curated | Curated |
| nssv16869053 | deletion | Curated | Curated |
| nssv17654083 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16161228 | Remapped | Perfect | NW_012132919.1:g.3 4387_35634del | GRCh38.p12 | Second Pass | NW_012132919.1 | Chr7|NW_01 2132919.1 | 34,387 | 35,634 |
| nssv16869053 | Remapped | Perfect | NW_012132919.1:g.3 4387_35634del | GRCh38.p12 | Second Pass | NW_012132919.1 | Chr7|NW_01 2132919.1 | 34,387 | 35,634 |
| nssv17654083 | Remapped | Perfect | NW_012132919.1:g.3 4387_35634del | GRCh38.p12 | Second Pass | NW_012132919.1 | Chr7|NW_01 2132919.1 | 34,387 | 35,634 |
| nssv16161228 | Remapped | Perfect | NC_000007.14:g.154 456738_154457985de l | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 154,456,738 | 154,457,985 |
| nssv16869053 | Remapped | Perfect | NC_000007.14:g.154 456738_154457985de l | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 154,456,738 | 154,457,985 |
| nssv17654083 | Remapped | Perfect | NC_000007.14:g.154 456738_154457985de l | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 154,456,738 | 154,457,985 |
| nssv16161228 | Submitted genomic | NC_000007.13:g.154 153823_154155070de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 154,153,823 | 154,155,070 | ||
| nssv16869053 | Submitted genomic | NC_000007.13:g.154 153823_154155070de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 154,153,823 | 154,155,070 | ||
| nssv17654083 | Submitted genomic | NC_000007.13:g.154 153823_154155070de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 154,153,823 | 154,155,070 |
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) |
|---|---|---|---|
| nssv16161228 | 0.587 | 12737 | 21692 |
| nssv16869053 | 0.655 | 19169 | 29246 |
| nssv17654083 | 0.078 | 499 | 6404 |