nsv4388052
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:304,422
- Publication(s):Zarrei et al. 2019
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: 866 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 866 SVs from 63 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4388052 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 154,448,333 | 154,752,754 |
| nsv4388052 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 155,369,485 | 155,673,906 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15657176 | copy number gain | 3-0261-000 | SNP array | Genotyping | 82 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15657176 | Remapped | Perfect | NC_000004.12:g.(?_ 154448333)_(154752 754_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 154,448,333 | 154,752,754 |
| nssv15657176 | Submitted genomic | NC_000004.11:g.(?_ 155369485)_(155673 906_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 155,369,485 | 155,673,906 |