nsv904241
- 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:76,785
- 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: 386 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 386 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv904241 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 55,242,144 | 55,250,685 | 55,312,954 | 55,318,928 |
| nsv904241 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 55,534,342 | 55,542,883 | 55,605,152 | 55,611,126 |
| nsv904241 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 53,321,634 | 53,330,175 | 53,392,444 | 53,398,418 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1596181 | copy number gain | IS40429 | SNP array | SNP genotyping analysis | 17 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1596181 | Remapped | Perfect | NC_000015.10:g.(55 242144_55250685)_( 55312954_55318928) dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 55,242,144 | 55,250,685 | 55,312,954 | 55,318,928 |
| nssv1596181 | Remapped | Perfect | NC_000015.9:g.(555 34342_55542883)_(5 5605152_55611126)d up | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 55,534,342 | 55,542,883 | 55,605,152 | 55,611,126 |
| nssv1596181 | Submitted genomic | NC_000015.8:g.(533 21634_53330175)_(5 3392444_53398418)d up | NCBI36 (hg18) | NC_000015.8 | Chr15 | 53,321,634 | 53,330,175 | 53,392,444 | 53,398,418 |