nsv6630316
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:134,146
- 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: 1083 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1083 SVs from 80 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6630316 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 177,946,621 | 178,080,766 |
| nsv6630316 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 177,373,622 | 177,507,767 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18284260 | duplication | OSC2596 | SNP array | Probe signal intensity | nssv18284506, nssv18284870, nssv18284871 |
| nssv18289008 | duplication | OSC3360 | SNP array | Probe signal intensity | 11 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18284260 | Remapped | Perfect | NC_000005.10:g.(?_ 177946621)_(178080 766_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 177,946,621 | 178,080,766 |
| nssv18289008 | Remapped | Perfect | NC_000005.10:g.(?_ 177946621)_(178080 766_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 177,946,621 | 178,080,766 |
| nssv18284260 | Submitted genomic | NC_000005.9:g.(?_1 77373622)_(1775077 67_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 177,373,622 | 177,507,767 | ||
| nssv18289008 | Submitted genomic | NC_000005.9:g.(?_1 77373622)_(1775077 67_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 177,373,622 | 177,507,767 |