nsv6630949
- 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:32,595
- 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: 169 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 169 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6630949 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 21,005,115 | 21,037,709 |
| nsv6630949 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 21,005,346 | 21,037,940 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18281708 | duplication | OSC2102 | SNP array | Probe signal intensity | nssv18282023, nssv18282345, nssv18282344 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18281708 | Remapped | Perfect | NC_000006.12:g.(?_ 21005115)_(2103770 9_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 21,005,115 | 21,037,709 |
| nssv18281708 | Submitted genomic | NC_000006.11:g.(?_ 21005346)_(2103794 0_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 21,005,346 | 21,037,940 |