nsv4381128
- 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:449,753
- 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: 1376 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1376 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4381128 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 26,973,723 | 27,423,475 |
| nsv4381128 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 26,941,502 | 27,391,254 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15625974 | copy number gain | 1-0405-001 | SNP array | Genotyping | 38 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15625974 | Remapped | Perfect | NC_000006.12:g.(?_ 26973723)_(2742347 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 26,973,723 | 27,423,475 |
| nssv15625974 | Submitted genomic | NC_000006.11:g.(?_ 26941502)_(2739125 4_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 26,941,502 | 27,391,254 |