nsv4383487
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:197,203
- 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: 1892 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1993 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4383487 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 22,293,365 | 22,490,567 |
| nsv4383487 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 22,761,250 | 22,959,555 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15619097 | copy number gain | 1-0181-002 | SNP array | Genotyping | 20 |
| nssv15638761 | copy number gain | 14-0033-001 | SNP array | Genotyping | 20 |
| nssv15640085 | copy number gain | 14-0112-002 | SNP array | Genotyping | 14 |
| nssv15645710 | copy number gain | 16-1021-003 | SNP array | Genotyping | 14 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15619097 | Remapped | Good | NC_000014.9:g.(?_2 2293365)_(22490567 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,293,365 | 22,490,567 |
| nssv15638761 | Remapped | Good | NC_000014.9:g.(?_2 2293365)_(22490567 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,293,365 | 22,490,567 |
| nssv15640085 | Remapped | Good | NC_000014.9:g.(?_2 2293365)_(22490567 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,293,365 | 22,490,567 |
| nssv15645710 | Remapped | Good | NC_000014.9:g.(?_2 2293365)_(22490567 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,293,365 | 22,490,567 |
| nssv15619097 | Submitted genomic | NC_000014.8:g.(?_2 2761250)_(22959555 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,761,250 | 22,959,555 | ||
| nssv15638761 | Submitted genomic | NC_000014.8:g.(?_2 2761250)_(22959555 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,761,250 | 22,959,555 | ||
| nssv15640085 | Submitted genomic | NC_000014.8:g.(?_2 2761250)_(22959555 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,761,250 | 22,959,555 | ||
| nssv15645710 | Submitted genomic | NC_000014.8:g.(?_2 2761250)_(22959555 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,761,250 | 22,959,555 |