nsv5387954
- 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:336
- Description:nsv4959112 from Abel et. al 2020 and nsv5489736 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: 250 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 96 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 250 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5387954 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 11,739,422 | 11,739,757 |
| nsv5387954 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 1,608,322 | 1,608,657 |
| nsv5387954 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 11,596,931 | 11,597,266 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16882387 | deletion | Curated | Curated |
| nssv16883829 | deletion | Curated | Curated |
| nssv17674980 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16882387 | Remapped | Perfect | NW_018654717.1:g.1 608322_1608657del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 1,608,322 | 1,608,657 |
| nssv16883829 | Remapped | Perfect | NW_018654717.1:g.1 608322_1608657del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 1,608,322 | 1,608,657 |
| nssv17674980 | Remapped | Perfect | NW_018654717.1:g.1 608322_1608657del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 1,608,322 | 1,608,657 |
| nssv16882387 | Remapped | Perfect | NC_000008.11:g.117 39422_11739757del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 11,739,422 | 11,739,757 |
| nssv16883829 | Remapped | Perfect | NC_000008.11:g.117 39422_11739757del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 11,739,422 | 11,739,757 |
| nssv17674980 | Remapped | Perfect | NC_000008.11:g.117 39422_11739757del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 11,739,422 | 11,739,757 |
| nssv16882387 | Submitted genomic | NC_000008.10:g.115 96931_11597266del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 11,596,931 | 11,597,266 | ||
| nssv16883829 | Submitted genomic | NC_000008.10:g.115 96931_11597266del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 11,596,931 | 11,597,266 | ||
| nssv17674980 | Submitted genomic | NC_000008.10:g.115 96931_11597266del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 11,596,931 | 11,597,266 |
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) |
|---|---|---|---|
| nssv16882387 | 0.02 | 569 | 29246 |
| nssv16883829 | 0.018 | 302 | 16834 |
| nssv17674980 | 0.017 | 107 | 6404 |