nsv6622668
- Organism: Homo sapiens
- Study:nstd224 (Zarrei 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:1,336,908
- Publication(s):Zarrei 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: 3105 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 3105 SVs from 87 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6622668 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 53,063,000 | 54,399,907 |
nsv6622668 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 53,529,718 | 54,866,625 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18308502 | deletion | OSC0710 | SNP array | Probe signal intensity | nssv18308498, nssv18308494, nssv18308196 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18308502 | Remapped | Perfect | NC_000014.9:g.(?_5 3063000)_(54399907 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 53,063,000 | 54,399,907 |
nssv18308502 | Submitted genomic | NC_000014.8:g.(?_5 3529718)_(54866625 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 53,529,718 | 54,866,625 |