nsv4385725
- 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:45,248
- 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: 541 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 539 SVs from 53 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4385725 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 48,284,933 | 48,330,180 |
nsv4385725 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 48,144,368 | 48,189,615 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15633924 | copy number loss | 10-1155-002 | SNP array | Genotyping | 23 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15633924 | Remapped | Perfect | NC_000023.11:g.(?_ 48284933)_(4833018 0_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,284,933 | 48,330,180 |
nssv15633924 | Submitted genomic | NC_000023.10:g.(?_ 48144368)_(4818961 5_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,144,368 | 48,189,615 |