nsv6633021
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:18,637
- Publication(s):Zarrei et al. 2023
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: 388 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 150 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 388 SVs from 74 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6633021 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 6,925,915 | 6,944,551 |
nsv6633021 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 321,038 | 339,673 |
nsv6633021 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 6,783,437 | 6,802,073 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18325751 | deletion | OSC1835 | SNP array | Probe signal intensity | 11 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18325751 | Remapped | Good | NW_018654717.1:g.( ?_321038)_(339673_ ?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 321,038 | 339,673 |
nssv18325751 | Remapped | Perfect | NC_000008.11:g.(?_ 6925915)_(6944551_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 6,925,915 | 6,944,551 |
nssv18325751 | Submitted genomic | NC_000008.10:g.(?_ 6783437)_(6802073_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 6,783,437 | 6,802,073 |