nsv430690
- Organism: Homo sapiens
- Study:nstd12 (Marshall et al. 2008)
- Variant Type:copy number variation
- Method Type:Merging, SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:266,653
- Publication(s):Marshall et al. 2008
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: 1483 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1483 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 54 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv430690 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 35,593,931 | 35,860,583 |
| nsv430690 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 35,818,997 | 36,085,649 |
| nsv430690 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 35,730,648 | 35,997,300 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv562108 | copy number loss | 47392 | Merging, SNP array | Merging, SNP genotyping analysis | 13 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv562108 | Remapped | Perfect | NC_000002.12:g.(?_ 35593931)_(3586058 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 35,593,931 | 35,860,583 |
| nssv562108 | Remapped | Perfect | NC_000002.11:g.(?_ 35818997)_(3608564 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 35,818,997 | 36,085,649 |
| nssv562108 | Submitted genomic | NC_000002.9:g.(?_3 5730648)_(35997300 _?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 35,730,648 | 35,997,300 |