nsv6632516
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,052
- 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: 327 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 327 SVs from 41 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6632516 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 15,842,336 | 15,859,387 |
nsv6632516 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 15,699,845 | 15,716,896 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18298928 | deletion | OSC5152 | SNP array | Probe signal intensity | nssv18299810, nssv18299811 |
nssv18300897 | deletion | OSC5504 | SNP array | Probe signal intensity | 5 |
nssv18301198 | deletion | OSC5513 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18298928 | Remapped | Perfect | NC_000008.11:g.(?_ 15842336)_(1585938 7_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 15,842,336 | 15,859,387 |
nssv18300897 | Remapped | Perfect | NC_000008.11:g.(?_ 15842336)_(1585938 7_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 15,842,336 | 15,859,387 |
nssv18301198 | Remapped | Perfect | NC_000008.11:g.(?_ 15842336)_(1585938 7_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 15,842,336 | 15,859,387 |
nssv18298928 | Submitted genomic | NC_000008.10:g.(?_ 15699845)_(1571689 6_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 15,699,845 | 15,716,896 | ||
nssv18300897 | Submitted genomic | NC_000008.10:g.(?_ 15699845)_(1571689 6_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 15,699,845 | 15,716,896 | ||
nssv18301198 | Submitted genomic | NC_000008.10:g.(?_ 15699845)_(1571689 6_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 15,699,845 | 15,716,896 |