nsv6620949
- 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:247,818
- 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: 642 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 643 SVs from 55 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6620949 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 111,737,492 | 111,985,309 |
| nsv6620949 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 111,608,216 | 111,856,033 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18299170 | duplication | OSC5343 | SNP array | Probe signal intensity | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18299170 | Remapped | Perfect | NC_000011.10:g.(?_ 111737492)_(111985 309_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 111,737,492 | 111,985,309 |
| nssv18299170 | Submitted genomic | NC_000011.9:g.(?_1 11608216)_(1118560 33_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 111,608,216 | 111,856,033 |