nsv430582
- 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:172,402
- 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: 598 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 598 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv430582 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 67,015,766 | 67,188,167 |
| nsv430582 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 67,589,898 | 67,762,299 |
| nsv430582 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000013.9 | Chr13 | 66,487,899 | 66,660,300 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv561977 | copy number gain | 51674 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv561977 | Remapped | Perfect | NC_000013.11:g.(?_ 67015766)_(6718816 7_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 67,015,766 | 67,188,167 |
| nssv561977 | Remapped | Perfect | NC_000013.10:g.(?_ 67589898)_(6776229 9_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 67,589,898 | 67,762,299 |
| nssv561977 | Submitted genomic | NC_000013.9:g.(?_6 6487899)_(66660300 _?)dup | NCBI35 (hg17) | NC_000013.9 | Chr13 | 66,487,899 | 66,660,300 |