nsv4769250
- Organism: Homo sapiens
- Study:nstd201 (Favilla et al. 2021)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:59,137,359
- Publication(s):Favilla et al. 2021
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: 93667 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 93619 SVs from 118 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4769250 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 96,841,221 | 155,978,579 |
| nsv4769250 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 96,096,220 | 155,208,244 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv16297005 | copy number loss | 2 | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16297005 | Remapped | Good | NC_000023.11:g.(?_ 96841221)_(1559785 79_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 96,841,221 | 155,978,579 |
| nssv16297005 | Submitted genomic | NC_000023.10:g.(?_ 96096220)_(1552082 44_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 96,096,220 | 155,208,244 |