nsv430103
- 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:235,718
- 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: 564 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 564 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 59 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv430103 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 118,129,359 | 118,365,076 |
| nsv430103 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 120,891,637 | 121,127,354 |
| nsv430103 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000009.9 | Chr9 | 117,971,191 | 118,206,908 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv560780 | copy number loss | 30193 | Merging, SNP array | Merging, SNP genotyping analysis | 23 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv560780 | Remapped | Perfect | NC_000009.12:g.(?_ 118129359)_(118365 076_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 118,129,359 | 118,365,076 |
| nssv560780 | Remapped | Perfect | NC_000009.11:g.(?_ 120891637)_(121127 354_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 120,891,637 | 121,127,354 |
| nssv560780 | Submitted genomic | NC_000009.9:g.(?_1 17971191)_(1182069 08_?)del | NCBI35 (hg17) | NC_000009.9 | Chr9 | 117,971,191 | 118,206,908 |