nsv432354
- 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:407,300
- 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: 1012 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 1007 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv432354 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 113,016,697 | 113,423,996 |
| nsv432354 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 112,259,925 | 112,661,942 |
| nsv432354 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000023.8 | ChrX | 112,066,070 | 112,473,368 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv565690 | copy number gain | 55240 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv565690 | Remapped | Perfect | NC_000023.11:g.(?_ 113016697)_(113423 996_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 113,016,697 | 113,423,996 |
| nssv565690 | Remapped | Good | NC_000023.10:g.(?_ 112259925)_(112661 942_?)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 112,259,925 | 112,661,942 |
| nssv565690 | Submitted genomic | NC_000023.8:g.(?_1 12066070)_(1124733 68_?)dup | NCBI35 (hg17) | NC_000023.8 | ChrX | 112,066,070 | 112,473,368 |