nsv6622693
- 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:47,860
- 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: 185 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 185 SVs from 37 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6622693 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 89,883,753 | 89,931,612 |
nsv6622693 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 90,350,097 | 90,397,956 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18284840 | deletion | OSC2577 | SNP array | Probe signal intensity | nssv18284476, nssv18284477, nssv18284478 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18284840 | Remapped | Perfect | NC_000014.9:g.(?_8 9883753)_(89931612 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 89,883,753 | 89,931,612 |
nssv18284840 | Submitted genomic | NC_000014.8:g.(?_9 0350097)_(90397956 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 90,350,097 | 90,397,956 |