nsv4366296
- 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:40,178
- 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: 1207 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1207 SVs from 84 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4366296 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 254,254 | 294,431 |
| nsv4366296 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 254,254 | 294,431 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15613764 | copy number gain | 1-0721-003 | SNP array | Genotyping | 17 |
| nssv15615142 | copy number gain | 1-0139-002 | SNP array | Genotyping | 16 |
| nssv15615960 | copy number gain | 1-0806-003 | SNP array | Genotyping | 23 |
| nssv15616969 | copy number gain | 1-0827-003 | SNP array | Genotyping | 29 |
| nssv15622577 | copy number gain | 1-0244-005 | SNP array | Genotyping | 26 |
| nssv15632552 | copy number gain | 10-1005-003 | SNP array | Genotyping | 20 |
| nssv15636877 | copy number gain | 14-0007-004 | SNP array | Genotyping | 21 |
| nssv15641183 | copy number gain | 14-0284-004 | SNP array | Genotyping | 28 |
| nssv15641754 | copy number gain | 14-0273-001 | SNP array | Genotyping | 11 |
| nssv15662897 | copy number gain | 215798S | SNP array | Genotyping | 21 |
| nssv15668426 | copy number gain | 7-0204-003 | SNP array | Genotyping | 22 |
| nssv15673255 | copy number gain | 9-0036-003 | SNP array | Genotyping | 24 |
| nssv15686651 | copy number gain | OCD152-SM-1338(188608) | SNP array | Genotyping | 21 |
| nssv15691016 | copy number gain | OCD180-LM-1754 | SNP array | Genotyping | 15 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15613764 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(294431_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 294,431 |
| nssv15615142 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(294431_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 294,431 |
| nssv15615960 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(294431_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 294,431 |
| nssv15616969 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(294431_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 294,431 |
| nssv15622577 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(294431_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 294,431 |
| nssv15632552 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(294431_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 294,431 |
| nssv15636877 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(294431_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 294,431 |
| nssv15641183 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(294431_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 294,431 |
| nssv15641754 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(294431_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 294,431 |
| nssv15662897 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(294431_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 294,431 |
| nssv15668426 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(294431_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 294,431 |
| nssv15673255 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(294431_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 294,431 |
| nssv15686651 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(294431_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 294,431 |
| nssv15691016 | Remapped | Perfect | NC_000006.12:g.(?_ 254254)_(294431_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,254 | 294,431 |
| nssv15613764 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(294431_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 294,431 | ||
| nssv15615142 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(294431_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 294,431 | ||
| nssv15615960 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(294431_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 294,431 | ||
| nssv15616969 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(294431_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 294,431 | ||
| nssv15622577 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(294431_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 294,431 | ||
| nssv15632552 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(294431_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 294,431 | ||
| nssv15636877 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(294431_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 294,431 | ||
| nssv15641183 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(294431_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 294,431 | ||
| nssv15641754 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(294431_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 294,431 | ||
| nssv15662897 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(294431_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 294,431 | ||
| nssv15668426 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(294431_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 294,431 | ||
| nssv15673255 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(294431_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 294,431 | ||
| nssv15686651 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(294431_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 294,431 | ||
| nssv15691016 | Submitted genomic | NC_000006.11:g.(?_ 254254)_(294431_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,254 | 294,431 |