nsv4371571
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:57,755
- Publication(s):Zarrei et al. 2019
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: 3296 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 2935 SVs from 94 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4371571 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 106,236,841 | 106,294,595 |
nsv4371571 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 106,693,454 | 106,751,190 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15619046 | copy number gain | 1-0912-004 | SNP array | Genotyping | 15 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15619046 | Remapped | Good | NC_000014.9:g.(?_1 06236841)_(1062945 95_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,236,841 | 106,294,595 |
nssv15619046 | Submitted genomic | NC_000014.8:g.(?_1 06693454)_(1067511 90_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,693,454 | 106,751,190 |