nsv429948
- 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:198,001
- 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: 1385 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1385 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 211 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv429948 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 136,675,575 | 136,873,575 |
| nsv429948 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 137,687,818 | 137,885,818 |
| nsv429948 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 137,757,000 | 137,955,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv560416 | copy number loss | 62464L | Merging, SNP array | Merging, SNP genotyping analysis | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv560416 | Remapped | Perfect | NC_000008.11:g.(?_ 136675575)_(136873 575_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,675,575 | 136,873,575 |
| nssv560416 | Remapped | Perfect | NC_000008.10:g.(?_ 137687818)_(137885 818_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,687,818 | 137,885,818 |
| nssv560416 | Submitted genomic | NC_000008.9:g.(?_1 37757000)_(1379550 00_?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 137,757,000 | 137,955,000 |