nsv2768200
- Organism: Homo sapiens
- Study:nstd125 (Wills et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,204,129
- Publication(s):Wills et al. 2016
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: 3084 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 3082 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2768200 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 108,530,954 | 109,735,082 |
| nsv2768200 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 109,147,410 | 110,492,659 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv13638279 | copy number gain | 8 | SNP array | SNP genotyping analysis | 3 | nssv13638280, nssv13638281 |
| nssv13638282 | copy number gain | 9 | SNP array | SNP genotyping analysis | 3 | nssv13638283, nssv13638287, nssv13638286 |
| nssv13638284 | copy number gain | 26 | SNP array | SNP genotyping analysis | 3 | nssv13638285 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13638279 | Remapped | Pass | NC_000002.12:g.(?_ 108530954)_(109735 082_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 108,530,954 | 109,735,082 |
| nssv13638282 | Remapped | Pass | NC_000002.12:g.(?_ 108530954)_(109735 082_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 108,530,954 | 109,735,082 |
| nssv13638284 | Remapped | Pass | NC_000002.12:g.(?_ 108530954)_(109735 082_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 108,530,954 | 109,735,082 |
| nssv13638279 | Submitted genomic | NC_000002.11:g.(?_ 109147410)_(110492 659_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 109,147,410 | 110,492,659 | ||
| nssv13638282 | Submitted genomic | NC_000002.11:g.(?_ 109147410)_(110492 659_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 109,147,410 | 110,492,659 | ||
| nssv13638284 | Submitted genomic | NC_000002.11:g.(?_ 109147410)_(110492 659_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 109,147,410 | 110,492,659 |