nsv6620953
- 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:54,363
- 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: 264 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 264 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6620953 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 127,634,181 | 127,688,543 |
| nsv6620953 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 127,504,076 | 127,558,438 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18284452 | duplication | OSC2559 | SNP array | Probe signal intensity | nssv18284451, nssv18284453, nssv18284215 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18284452 | Remapped | Perfect | NC_000011.10:g.(?_ 127634181)_(127688 543_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 127,634,181 | 127,688,543 |
| nssv18284452 | Submitted genomic | NC_000011.9:g.(?_1 27504076)_(1275584 38_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 127,504,076 | 127,558,438 |