nsv4769249
- Organism: Homo sapiens
- Study:nstd201 (Favilla et al. 2021)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:93,494,836
- 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: 142479 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 142400 SVs from 120 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4769249 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 62,509,346 | 156,004,181 |
| nsv4769249 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 61,728,816 | 155,233,846 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv16297004 | copy number gain | 1 | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16297004 | Remapped | Good | NC_000023.11:g.(?_ 62509346)_(1560041 81_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 62,509,346 | 156,004,181 |
| nssv16297004 | Submitted genomic | NC_000023.10:g.(?_ 61728816)_(1552338 46_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 61,728,816 | 155,233,846 |