nsv6633660
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:117,553
- 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: 2111 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 2115 SVs from 85 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6633660 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 12,048,206 | 12,165,758 |
nsv6633660 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 12,048,206 | 12,165,758 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18284035 | deletion | OSC2435 | SNP array | Probe signal intensity | nssv18283107, nssv18284034 |
nssv18289637 | deletion | OSC3364 | SNP array | Probe signal intensity | nssv18289070, nssv18289948 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18284035 | Remapped | Perfect | NC_000009.12:g.(?_ 12048206)_(1216575 8_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 12,048,206 | 12,165,758 |
nssv18289637 | Remapped | Perfect | NC_000009.12:g.(?_ 12048206)_(1216575 8_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 12,048,206 | 12,165,758 |
nssv18284035 | Submitted genomic | NC_000009.11:g.(?_ 12048206)_(1216575 8_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 12,048,206 | 12,165,758 | ||
nssv18289637 | Submitted genomic | NC_000009.11:g.(?_ 12048206)_(1216575 8_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 12,048,206 | 12,165,758 |