nsv6635554
- 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:269,921
- 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: 1709 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1638 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 | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6635554 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 144,351,265 | 144,621,185 |
nsv6635554 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 145,574,930 | 145,846,570 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18326797 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18326797 | Remapped | Good | NC_000008.11:g.(14 4351265_?)_(?_1446 21185)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 144,351,265 | 144,621,185 |
nssv18326797 | Submitted genomic | NC_000008.10:g.(14 5574930_?)_(?_1458 46570)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 145,574,930 | 145,846,570 |