nsv875096
- 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:135,404
- 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: 570 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 570 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 141 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv875096 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 130,254,774 | 130,255,764 | 130,380,339 | 130,390,177 |
| nsv875096 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 131,012,347 | 131,013,337 | 131,137,912 | 131,147,750 |
| nsv875096 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 130,728,817 | 130,729,807 | 130,854,382 | 130,864,220 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1553269 | copy number gain | MS19886 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1553269 | Remapped | Perfect | NC_000002.12:g.(13 0254774_130255764) _(130380339_130390 177)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 130,254,774 | 130,255,764 | 130,380,339 | 130,390,177 |
| nssv1553269 | Remapped | Perfect | NC_000002.11:g.(13 1012347_131013337) _(131137912_131147 750)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 131,012,347 | 131,013,337 | 131,137,912 | 131,147,750 |
| nssv1553269 | Submitted genomic | NC_000002.10:g.(13 0728817_130729807) _(130854382_130864 220)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 130,728,817 | 130,729,807 | 130,854,382 | 130,864,220 |