nsv429910
- 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:236,035
- 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: 833 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 833 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv429910 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 35,163,893 | 35,399,927 |
| nsv429910 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 35,021,411 | 35,257,445 |
| nsv429910 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 35,140,953 | 35,376,987 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv560304 | copy number gain | 66842L | Merging, SNP array | Merging, SNP genotyping analysis | 9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv560304 | Remapped | Perfect | NC_000008.11:g.(?_ 35163893)_(3539992 7_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 35,163,893 | 35,399,927 |
| nssv560304 | Remapped | Perfect | NC_000008.10:g.(?_ 35021411)_(3525744 5_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 35,021,411 | 35,257,445 |
| nssv560304 | Submitted genomic | NC_000008.9:g.(?_3 5140953)_(35376987 _?)dup | NCBI35 (hg17) | NC_000008.9 | Chr8 | 35,140,953 | 35,376,987 |