nsv4383042
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:197,288
- 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4383042 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 22,293,280 | 22,490,567 |
| nsv4383042 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 22,761,165 | 22,959,555 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15612777 | copy number gain | 1-0652-003 | SNP array | Genotyping | 12 |
| nssv15636158 | copy number gain | 13-0109-003 | SNP array | Genotyping | 21 |
| nssv15639650 | copy number gain | 14-0265-002 | SNP array | Genotyping | 22 |
| nssv15642779 | copy number gain | 14-0361-002 | SNP array | Genotyping | 14 |
| nssv15690407 | copy number gain | OCD143-AH-1298(189711NF) | SNP array | Genotyping | 26 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15612777 | Remapped | Good | NC_000014.9:g.(?_2 2293280)_(22490567 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,293,280 | 22,490,567 |
| nssv15636158 | Remapped | Good | NC_000014.9:g.(?_2 2293280)_(22490567 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,293,280 | 22,490,567 |
| nssv15639650 | Remapped | Good | NC_000014.9:g.(?_2 2293280)_(22490567 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,293,280 | 22,490,567 |
| nssv15642779 | Remapped | Good | NC_000014.9:g.(?_2 2293280)_(22490567 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,293,280 | 22,490,567 |
| nssv15690407 | Remapped | Good | NC_000014.9:g.(?_2 2293280)_(22490567 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,293,280 | 22,490,567 |
| nssv15612777 | Submitted genomic | NC_000014.8:g.(?_2 2761165)_(22959555 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,761,165 | 22,959,555 | ||
| nssv15636158 | Submitted genomic | NC_000014.8:g.(?_2 2761165)_(22959555 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,761,165 | 22,959,555 | ||
| nssv15639650 | Submitted genomic | NC_000014.8:g.(?_2 2761165)_(22959555 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,761,165 | 22,959,555 | ||
| nssv15642779 | Submitted genomic | NC_000014.8:g.(?_2 2761165)_(22959555 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,761,165 | 22,959,555 | ||
| nssv15690407 | Submitted genomic | NC_000014.8:g.(?_2 2761165)_(22959555 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,761,165 | 22,959,555 |