nsv6634213
- 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:355,590
- 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: 904 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 889 SVs from 69 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6634213 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 141,116,138 | 141,471,727 |
nsv6634213 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 140,210,323 | 140,559,721 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18317670 | duplication | OSC8371 | SNP array | Probe signal intensity | 8 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18317670 | Remapped | Good | NC_000023.11:g.(?_ 141116138)_(141471 727_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 141,116,138 | 141,471,727 |
nssv18317670 | Submitted genomic | NC_000023.10:g.(?_ 140210323)_(140559 721_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 140,210,323 | 140,559,721 |