nsv4378163
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:26,133
- 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: 1092 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1092 SVs from 83 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4378163 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 254,254 | 280,386 |
| nsv4378163 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 254,254 | 280,386 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15611980 | copy number gain | 1-0638-003 | SNP array | Genotyping | 17 |
| nssv15624682 | copy number gain | 1-0332-001 | SNP array | Genotyping | 23 |
| nssv15627706 | copy number gain | 1-0534-001 | SNP array | Genotyping | 23 |
| nssv15627945 | copy number gain | 1-0514-002 | SNP array | Genotyping | 19 |
| nssv15630659 | copy number gain | 1-0598-003 | SNP array | Genotyping | 17 |
| nssv15631526 | copy number gain | 1-0635-004 | SNP array | Genotyping | 23 |
| nssv15640470 | copy number gain | 14-0325-003 | SNP array | Genotyping | 19 |
| nssv15647485 | copy number gain | 2-0210-004 | SNP array | Genotyping | 19 |
| nssv15652993 | copy number gain | 2-1579-001 | SNP array | Genotyping | 21 |
| nssv15660596 | copy number gain | 5-0007-003 | SNP array | Genotyping | 20 |
| nssv15677903 | copy number gain | 219448 | SNP array | Genotyping | 15 |
| nssv15682102 | copy number gain | 218112 | SNP array | Genotyping | 38 |
| nssv15701245 | copy number gain | 183057 | SNP array | Genotyping | 24 |
| nssv15702333 | copy number gain | 198407 | SNP array | Genotyping | 18 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15611980 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(280386_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 280,386 |
| nssv15624682 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(280386_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 280,386 |
| nssv15627706 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(280386_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 280,386 |
| nssv15627945 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(280386_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 280,386 |
| nssv15630659 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(280386_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 280,386 |
| nssv15631526 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(280386_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 280,386 |
| nssv15640470 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(280386_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 280,386 |
| nssv15647485 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(280386_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 280,386 |
| nssv15652993 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(280386_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 280,386 |
| nssv15660596 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(280386_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 280,386 |
| nssv15677903 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(280386_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 280,386 |
| nssv15682102 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(280386_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 280,386 |
| nssv15701245 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(280386_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 280,386 |
| nssv15702333 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(280386_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 280,386 |
| nssv15611980 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(280386_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 280,386 | ||
| nssv15624682 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(280386_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 280,386 | ||
| nssv15627706 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(280386_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 280,386 | ||
| nssv15627945 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(280386_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 280,386 | ||
| nssv15630659 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(280386_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 280,386 | ||
| nssv15631526 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(280386_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 280,386 | ||
| nssv15640470 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(280386_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 280,386 | ||
| nssv15647485 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(280386_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 280,386 | ||
| nssv15652993 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(280386_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 280,386 | ||
| nssv15660596 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(280386_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 280,386 | ||
| nssv15677903 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(280386_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 280,386 | ||
| nssv15682102 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(280386_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 280,386 | ||
| nssv15701245 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(280386_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 280,386 | ||
| nssv15702333 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(280386_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 280,386 |