nsv875246
- 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:41,366
- 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: 237 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 237 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv875246 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 141,769,531 | 141,772,551 | 141,809,649 | 141,810,896 |
| nsv875246 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 142,527,100 | 142,530,120 | 142,567,218 | 142,568,465 |
| nsv875246 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 142,243,570 | 142,246,590 | 142,283,688 | 142,284,935 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1588037 | copy number loss | IS38148 | SNP array | SNP genotyping analysis | 24 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1588037 | Remapped | Perfect | NC_000002.12:g.(14 1769531_141772551) _(141809649_141810 896)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 141,769,531 | 141,772,551 | 141,809,649 | 141,810,896 |
| nssv1588037 | Remapped | Perfect | NC_000002.11:g.(14 2527100_142530120) _(142567218_142568 465)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 142,527,100 | 142,530,120 | 142,567,218 | 142,568,465 |
| nssv1588037 | Submitted genomic | NC_000002.10:g.(14 2243570_142246590) _(142283688_142284 935)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 142,243,570 | 142,246,590 | 142,283,688 | 142,284,935 |