nsv4578342
- Organism: Homo sapiens
- Study:nstd182 (Al-Mubarak et al. 2020)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:59,427
- Description:9q34.3
- Publication(s):Al-Mubarak et al. 2020
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: 764 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 764 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4578342 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 136,481,478 | 136,540,904 |
| nsv4578342 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 139,375,930 | 139,435,356 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number |
|---|---|---|---|---|---|
| nssv16091772 | copy number gain | ADHDF17 | SNP array | Genotyping | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16091772 | Remapped | Perfect | NC_000009.12:g.(?_ 136481478)_(136540 904_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 136,481,478 | 136,540,904 |
| nssv16091772 | Submitted genomic | NC_000009.11:g.(?_ 139375930)_(139435 356_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 139,375,930 | 139,435,356 |