nsv6123072
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:293
- Description:nsv5483575 from Byrska-Bishop et. al 2021. 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: 284 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 284 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6123072 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 8,822,401 | 8,822,693 |
| nsv6123072 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,529,303 | 4,529,595 |
| nsv6123072 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 8,679,911 | 8,680,203 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17673269 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17673269 | Remapped | Perfect | NW_018654717.1:g.4 529303_4529595del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,529,303 | 4,529,595 |
| nssv17673269 | Remapped | Perfect | NC_000008.11:g.882 2401_8822693del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 8,822,401 | 8,822,693 |
| nssv17673269 | Submitted genomic | NC_000008.10:g.867 9911_8680203del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 8,679,911 | 8,680,203 |
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) |
|---|---|---|---|
| nssv17673269 | 0.684 | 4287 | 6264 |