nsv5386131
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:335
- Description:nsv4807032 from Abel et. al 2020. For a full list of variants now included in nstd186, refer to the mapping file provided here.
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 130 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 130 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5386131 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 125,297,419 | 125,297,753 |
| nsv5386131 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 125,016,263 | 125,016,597 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16870278 | deletion | Curated | Curated |
| nssv16876924 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16870278 | Remapped | Perfect | NC_000003.12:g.125 297419_125297753de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 125,297,419 | 125,297,753 |
| nssv16876924 | Remapped | Perfect | NC_000003.12:g.125 297419_125297753de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 125,297,419 | 125,297,753 |
| nssv16870278 | Submitted genomic | NC_000003.11:g.125 016263_125016597de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 125,016,263 | 125,016,597 | ||
| nssv16876924 | Submitted genomic | NC_000003.11:g.125 016263_125016597de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 125,016,263 | 125,016,597 |
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) |
|---|---|---|---|
| nssv16870278 | 0.032 | 924 | 29234 |
| nssv16876924 | 0.035 | 582 | 16834 |