nsv4379913
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:38,894
- 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: 627 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 627 SVs from 77 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4379913 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,990,647 |
| nsv4379913 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 180,378,754 | 180,417,647 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15612696 | copy number gain | 1-0641-003 | SNP array | Genotyping | 20 |
| nssv15614180 | copy number gain | 1-0700-003 | SNP array | Genotyping | 26 |
| nssv15640579 | copy number gain | 14-0344-001 | SNP array | Genotyping | 24 |
| nssv15646111 | copy number gain | 16-1023-001 | SNP array | Genotyping | 14 |
| nssv15652589 | copy number gain | 2-1562-001 | SNP array | Genotyping | 21 |
| nssv15654191 | copy number gain | 2-1591-002 | SNP array | Genotyping | 26 |
| nssv15674961 | copy number gain | 206765 | SNP array | Genotyping | 32 |
| nssv15680543 | copy number gain | 214097 | SNP array | Genotyping | 19 |
| nssv15691762 | copy number gain | OCD78-896713 | SNP array | Genotyping | 20 |
| nssv15699729 | copy number gain | 199152 | SNP array | Genotyping | 27 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15612696 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(180990 647_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,990,647 |
| nssv15614180 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(180990 647_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,990,647 |
| nssv15640579 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(180990 647_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,990,647 |
| nssv15646111 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(180990 647_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,990,647 |
| nssv15652589 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(180990 647_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,990,647 |
| nssv15654191 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(180990 647_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,990,647 |
| nssv15674961 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(180990 647_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,990,647 |
| nssv15680543 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(180990 647_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,990,647 |
| nssv15691762 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(180990 647_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,990,647 |
| nssv15699729 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(180990 647_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,990,647 |
| nssv15612696 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804176 47_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,417,647 | ||
| nssv15614180 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804176 47_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,417,647 | ||
| nssv15640579 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804176 47_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,417,647 | ||
| nssv15646111 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804176 47_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,417,647 | ||
| nssv15652589 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804176 47_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,417,647 | ||
| nssv15654191 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804176 47_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,417,647 | ||
| nssv15674961 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804176 47_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,417,647 | ||
| nssv15680543 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804176 47_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,417,647 | ||
| nssv15691762 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804176 47_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,417,647 | ||
| nssv15699729 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804176 47_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,417,647 |