nsv875239
- Organism: Homo sapiens
- Study:nstd71 (Xu et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:44,254
- Publication(s):Xu et al. 2011
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: 380 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 380 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 136 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv875239 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 141,437,777 | 141,441,777 | 141,477,749 | 141,482,030 |
| nsv875239 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 142,195,346 | 142,199,346 | 142,235,318 | 142,239,599 |
| nsv875239 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 141,911,816 | 141,915,816 | 141,951,788 | 141,956,069 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1579221 | copy number gain | IS35072 | SNP array | SNP genotyping analysis | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1579221 | Remapped | Perfect | NC_000002.12:g.(14 1437777_141441777) _(141477749_141482 030)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 141,437,777 | 141,441,777 | 141,477,749 | 141,482,030 |
| nssv1579221 | Remapped | Perfect | NC_000002.11:g.(14 2195346_142199346) _(142235318_142239 599)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 142,195,346 | 142,199,346 | 142,235,318 | 142,239,599 |
| nssv1579221 | Submitted genomic | NC_000002.10:g.(14 1911816_141915816) _(141951788_141956 069)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 141,911,816 | 141,915,816 | 141,951,788 | 141,956,069 |