nsv6635635
- Organism: Homo sapiens
- Study:nstd227 (Kikas 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:1,396,995
- 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: 5662 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 5658 SVs from 109 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6635635 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 18,551,346 | 19,948,340 |
| nsv6635635 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 19,327,823 | 20,416,499 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18327364 | duplication | SNP array | Probe signal intensity |
| nssv18327365 | duplication | SNP array | Probe signal intensity |
| nssv18327366 | duplication | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18327364 | Remapped | Pass | NC_000014.9:g.(185 51346_?)_(?_199483 40)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 18,551,346 | 19,948,340 |
| nssv18327365 | Remapped | Pass | NC_000014.9:g.(185 51346_?)_(?_199483 40)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 18,551,346 | 19,948,340 |
| nssv18327366 | Remapped | Pass | NC_000014.9:g.(185 51346_?)_(?_199483 40)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 18,551,346 | 19,948,340 |
| nssv18327364 | Submitted genomic | NC_000014.8:g.(193 27823_?)_(?_204164 99)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 19,327,823 | 20,416,499 | ||
| nssv18327365 | Submitted genomic | NC_000014.8:g.(193 27823_?)_(?_204164 99)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 19,327,823 | 20,416,499 | ||
| nssv18327366 | Submitted genomic | NC_000014.8:g.(193 27823_?)_(?_204164 99)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 19,327,823 | 20,416,499 |