nsv2768201
- 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:1,723,239
- 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: 4126 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 4126 SVs from 114 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2768201 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 110,631,041 | 112,354,279 |
| nsv2768201 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 111,388,618 | 113,111,856 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv13638280 | copy number loss | 8 | SNP array | SNP genotyping analysis | 1 | nssv13638279, nssv13638281 |
| nssv13638283 | copy number loss | 9 | SNP array | SNP genotyping analysis | 1 | nssv13638282, nssv13638287, nssv13638286 |
| nssv13638285 | copy number loss | 26 | SNP array | SNP genotyping analysis | 1 | nssv13638284 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13638280 | Remapped | Perfect | NC_000002.12:g.(?_ 110631041)_(112354 279_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 110,631,041 | 112,354,279 |
| nssv13638283 | Remapped | Perfect | NC_000002.12:g.(?_ 110631041)_(112354 279_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 110,631,041 | 112,354,279 |
| nssv13638285 | Remapped | Perfect | NC_000002.12:g.(?_ 110631041)_(112354 279_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 110,631,041 | 112,354,279 |
| nssv13638280 | Submitted genomic | NC_000002.11:g.(?_ 111388618)_(113111 856_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 111,388,618 | 113,111,856 | ||
| nssv13638283 | Submitted genomic | NC_000002.11:g.(?_ 111388618)_(113111 856_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 111,388,618 | 113,111,856 | ||
| nssv13638285 | Submitted genomic | NC_000002.11:g.(?_ 111388618)_(113111 856_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 111,388,618 | 113,111,856 |