nsv5393318
- 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:373
- Description:nsv4867263 from Abel et. al 2020 and nsv5526966 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: 141 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5393318 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 50,766,757 | 50,767,129 |
| nsv5393318 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 48,844,118 | 48,844,490 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16869027 | deletion | Curated | Curated |
| nssv16873082 | deletion | Curated | Curated |
| nssv17958061 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16869027 | Remapped | Perfect | NC_000017.11:g.507 66757_50767129del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 50,766,757 | 50,767,129 |
| nssv16873082 | Remapped | Perfect | NC_000017.11:g.507 66757_50767129del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 50,766,757 | 50,767,129 |
| nssv17958061 | Remapped | Perfect | NC_000017.11:g.507 66757_50767129del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 50,766,757 | 50,767,129 |
| nssv16869027 | Submitted genomic | NC_000017.10:g.488 44118_48844490del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 48,844,118 | 48,844,490 | ||
| nssv16873082 | Submitted genomic | NC_000017.10:g.488 44118_48844490del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 48,844,118 | 48,844,490 | ||
| nssv17958061 | Submitted genomic | NC_000017.10:g.488 44118_48844490del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 48,844,118 | 48,844,490 |
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) |
|---|---|---|---|
| nssv16869027 | 0.041 | 694 | 16834 |
| nssv16873082 | 0.037 | 1077 | 29246 |
| nssv17958061 | 0.03 | 191 | 6404 |