nsv4639265
- 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:57
- Description:esv3873207 from 1000 Genomes Consortium Phase 3 Integrated SV and nsv4227890 from gnomAD Structural Variants and nsv5500185 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: 104 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4639265 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 61,571,028 | 61,571,084 |
| nsv4639265 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 62,037,746 | 62,037,802 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16158034 | deletion | Curated | Curated |
| nssv16196008 | deletion | Curated | Curated |
| nssv17963608 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16158034 | Remapped | Perfect | NC_000014.9:g.6157 1028_61571084del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 61,571,028 | 61,571,084 |
| nssv16196008 | Remapped | Perfect | NC_000014.9:g.6157 1028_61571084del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 61,571,028 | 61,571,084 |
| nssv17963608 | Remapped | Perfect | NC_000014.9:g.6157 1028_61571084del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 61,571,028 | 61,571,084 |
| nssv16158034 | Submitted genomic | NC_000014.8:g.6203 7746_62037802del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 62,037,746 | 62,037,802 | ||
| nssv16196008 | Submitted genomic | NC_000014.8:g.6203 7746_62037802del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 62,037,746 | 62,037,802 | ||
| nssv17963608 | Submitted genomic | NC_000014.8:g.6203 7746_62037802del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 62,037,746 | 62,037,802 |
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) |
|---|---|---|---|
| nssv16158034 | 0.024 | 522 | 21570 |
| nssv16196008 | 0.054 | 271 | 5008 |
| nssv17963608 | 0.054 | 344 | 6384 |