nsv4376693
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:60,681
- 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: 1374 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1374 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4376693 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 254,254 | 314,934 |
| nsv4376693 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 254,254 | 314,934 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15616000 | copy number gain | 1-0139-003 | SNP array | Genotyping | 16 |
| nssv15617651 | copy number gain | 1-0153-002 | SNP array | Genotyping | 25 |
| nssv15623566 | copy number gain | 1-0269-002 | SNP array | Genotyping | 29 |
| nssv15632346 | copy number gain | 10-0002-003 | SNP array | Genotyping | 22 |
| nssv15633688 | copy number gain | 12-4139-001 | SNP array | Genotyping | 25 |
| nssv15636610 | copy number gain | 13-0135-002 | SNP array | Genotyping | 31 |
| nssv15639019 | copy number gain | 14-0243-004 | SNP array | Genotyping | 24 |
| nssv15639196 | copy number gain | 14-0277-001 | SNP array | Genotyping | 26 |
| nssv15654971 | copy number gain | 2-1632-002 | SNP array | Genotyping | 20 |
| nssv15664291 | copy number gain | 7-0053-003 | SNP array | Genotyping | 27 |
| nssv15666076 | copy number gain | 5-0083-003 | SNP array | Genotyping | 24 |
| nssv15667871 | copy number gain | 7-0132-003 | SNP array | Genotyping | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15616000 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 314,934 |
| nssv15617651 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 314,934 |
| nssv15623566 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 314,934 |
| nssv15632346 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 314,934 |
| nssv15633688 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 314,934 |
| nssv15636610 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 314,934 |
| nssv15639019 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 314,934 |
| nssv15639196 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 314,934 |
| nssv15654971 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 314,934 |
| nssv15664291 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 314,934 |
| nssv15666076 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 314,934 |
| nssv15667871 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 314,934 |
| nssv15616000 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 314,934 | ||
| nssv15617651 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 314,934 | ||
| nssv15623566 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 314,934 | ||
| nssv15632346 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 314,934 | ||
| nssv15633688 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 314,934 | ||
| nssv15636610 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 314,934 | ||
| nssv15639019 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 314,934 | ||
| nssv15639196 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 314,934 | ||
| nssv15654971 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 314,934 | ||
| nssv15664291 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 314,934 | ||
| nssv15666076 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 314,934 | ||
| nssv15667871 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 314,934 |