nsv871048
- 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:48,736
- 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: 178 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 178 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 53 SVs from 9 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv871048 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 24,265,089 | 24,267,418 | 24,307,661 | 24,313,824 |
| nsv871048 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 24,591,579 | 24,593,908 | 24,634,151 | 24,640,314 |
| nsv871048 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 24,464,166 | 24,466,495 | 24,506,738 | 24,512,901 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1521544 | copy number gain | SP52428 | SNP array | SNP genotyping analysis | 15 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1521544 | Remapped | Perfect | NC_000001.11:g.(24 265089_24267418)_( 24307661_24313824) dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 24,265,089 | 24,267,418 | 24,307,661 | 24,313,824 |
| nssv1521544 | Remapped | Perfect | NC_000001.10:g.(24 591579_24593908)_( 24634151_24640314) dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 24,591,579 | 24,593,908 | 24,634,151 | 24,640,314 |
| nssv1521544 | Submitted genomic | NC_000001.9:g.(244 64166_24466495)_(2 4506738_24512901)d up | NCBI36 (hg18) | NC_000001.9 | Chr1 | 24,464,166 | 24,466,495 | 24,506,738 | 24,512,901 |