nsv6623144
- 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:12,062
- 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: 174 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 174 SVs from 38 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6623144 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 76,762,994 | 76,775,055 |
nsv6623144 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 77,055,335 | 77,067,396 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18302268 | deletion | OSC5619 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18302268 | Remapped | Perfect | NC_000015.10:g.(?_ 76762994)_(7677505 5_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 76,762,994 | 76,775,055 |
nssv18302268 | Submitted genomic | NC_000015.9:g.(?_7 7055335)_(77067396 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 77,055,335 | 77,067,396 |