nsv6634772
- Organism: Homo sapiens
- Study:nstd227 (Kikas 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:10,426
- Publication(s):Kikas 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: 577 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 137 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 573 SVs from 78 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634772 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 76,504,886 | 76,515,243 |
| nsv6634772 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187561.1 | Chr7|NT_18 7561.1 | 3,905 | 14,330 |
| nsv6634772 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 76,134,203 | 76,144,560 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18328723 | deletion | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18328723 | Remapped | Good | NT_187561.1:g.(390 5_?)_(?_14330)del | GRCh38.p12 | Second Pass | NT_187561.1 | Chr7|NT_18 7561.1 | 3,905 | 14,330 |
| nssv18328723 | Remapped | Perfect | NC_000007.14:g.(76 504886_?)_(?_76515 243)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,504,886 | 76,515,243 |
| nssv18328723 | Submitted genomic | NC_000007.13:g.(76 134203_?)_(?_76144 560)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,134,203 | 76,144,560 |