nsv6631478
- 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:100,026
- 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: 1370 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 1370 SVs from 103 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6631478 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 31,385,816 | 31,485,841 |
nsv6631478 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 31,353,593 | 31,453,618 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18282513 | deletion | OSC2218 | SNP array | Probe signal intensity | 5 |
nssv18323284 | deletion | OSC1392 | SNP array | Probe signal intensity | nssv18322734, nssv18323003, nssv18323283 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18282513 | Remapped | Perfect | NC_000006.12:g.(?_ 31385816)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,385,816 | 31,485,841 |
nssv18323284 | Remapped | Perfect | NC_000006.12:g.(?_ 31385816)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,385,816 | 31,485,841 |
nssv18282513 | Submitted genomic | NC_000006.11:g.(?_ 31353593)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,353,593 | 31,453,618 | ||
nssv18323284 | Submitted genomic | NC_000006.11:g.(?_ 31353593)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,353,593 | 31,453,618 |