nsv4372173
- 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:546,419
- 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: 2412 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 2326 SVs from 106 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4372173 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 145,601,946 | 146,148,364 |
| nsv4372173 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 145,289,812 | 145,932,455 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15695282 | copy number gain | 157170 | SNP array | Genotyping | 15 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15695282 | Remapped | Pass | NC_000001.11:g.(?_ 145601946)_(146148 364_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,601,946 | 146,148,364 |
| nssv15695282 | Submitted genomic | NC_000001.10:g.(?_ 145289812)_(145932 455_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 145,289,812 | 145,932,455 |