nsv4640661
- 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:69
- Description:esv3835403 from 1000 Genomes Consortium Phase 3 Integrated SV and nsv4521094 from gnomAD Structural Variants and nsv4913683 from Abel et. al 2020 and nsv5472859 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: 172 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 172 SVs from 46 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4640661 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 63,162,826 | 63,162,894 |
| nsv4640661 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 64,028,544 | 64,028,612 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16164435 | deletion | Curated | Curated |
| nssv16184484 | deletion | Curated | Curated |
| nssv16878599 | deletion | Curated | Curated |
| nssv17674554 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16164435 | Remapped | Perfect | NC_000004.12:g.631 62826_63162894del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 63,162,826 | 63,162,894 |
| nssv16184484 | Remapped | Perfect | NC_000004.12:g.631 62826_63162894del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 63,162,826 | 63,162,894 |
| nssv16878599 | Remapped | Perfect | NC_000004.12:g.631 62826_63162894del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 63,162,826 | 63,162,894 |
| nssv17674554 | Remapped | Perfect | NC_000004.12:g.631 62826_63162894del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 63,162,826 | 63,162,894 |
| nssv16164435 | Submitted genomic | NC_000004.11:g.640 28544_64028612del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 64,028,544 | 64,028,612 | ||
| nssv16184484 | Submitted genomic | NC_000004.11:g.640 28544_64028612del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 64,028,544 | 64,028,612 | ||
| nssv16878599 | Submitted genomic | NC_000004.11:g.640 28544_64028612del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 64,028,544 | 64,028,612 | ||
| nssv17674554 | Submitted genomic | NC_000004.11:g.640 28544_64028612del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 64,028,544 | 64,028,612 |
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) |
|---|---|---|---|
| nssv16164435 | 0.078 | 1686 | 21484 |
| nssv16184484 | 0.059 | 294 | 5008 |
| nssv16878599 | 0.091 | 2663 | 29246 |
| nssv17674554 | 0.071 | 456 | 6404 |