nsv6634238
- 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:47,099
- 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: 290 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 289 SVs from 33 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6634238 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 151,943,206 | 151,990,304 |
nsv6634238 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 151,111,678 | 151,158,776 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18300468 | deletion | OSC5445 | SNP array | Probe signal intensity | nssv18300224, nssv18300815, nssv18300816 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18300468 | Remapped | Perfect | NC_000023.11:g.(?_ 151943206)_(151990 304_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 151,943,206 | 151,990,304 |
nssv18300468 | Submitted genomic | NC_000023.10:g.(?_ 151111678)_(151158 776_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 151,111,678 | 151,158,776 |