nsv4368906
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:40,641
- 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: 1216 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1216 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4368906 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 254,283 | 294,923 |
| nsv4368906 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 254,283 | 294,923 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15611659 | copy number loss | 1-0653-001 | SNP array | Genotyping | 19 |
| nssv15625074 | copy number loss | 1-0375-001 | SNP array | Genotyping | 19 |
| nssv15633357 | copy number loss | 12-4058-004 | SNP array | Genotyping | 29 |
| nssv15648953 | copy number gain | 2-1116-002 | SNP array | Genotyping | 12 |
| nssv15649713 | copy number loss | 2-1330-003 | SNP array | Genotyping | 12 |
| nssv15651472 | copy number loss | 2-1437-002 | SNP array | Genotyping | 17 |
| nssv15657693 | copy number loss | 4-0042-004 | SNP array | Genotyping | 16 |
| nssv15687152 | copy number loss | OCD32-S_896582 | SNP array | Genotyping | 28 |
| nssv15697769 | copy number loss | 187362 | SNP array | Genotyping | 16 |
| nssv15697883 | copy number loss | 213838 | SNP array | Genotyping | 25 |
| nssv15702127 | copy number loss | 237762 | SNP array | Genotyping | 14 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15611659 | Remapped | Perfect | NC_000006.12:g.(?_ 254283)_(294923_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,283 | 294,923 |
| nssv15625074 | Remapped | Perfect | NC_000006.12:g.(?_ 254283)_(294923_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,283 | 294,923 |
| nssv15633357 | Remapped | Perfect | NC_000006.12:g.(?_ 254283)_(294923_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,283 | 294,923 |
| nssv15648953 | Remapped | Perfect | NC_000006.12:g.(?_ 254283)_(294923_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,283 | 294,923 |
| nssv15649713 | Remapped | Perfect | NC_000006.12:g.(?_ 254283)_(294923_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,283 | 294,923 |
| nssv15651472 | Remapped | Perfect | NC_000006.12:g.(?_ 254283)_(294923_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,283 | 294,923 |
| nssv15657693 | Remapped | Perfect | NC_000006.12:g.(?_ 254283)_(294923_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,283 | 294,923 |
| nssv15687152 | Remapped | Perfect | NC_000006.12:g.(?_ 254283)_(294923_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,283 | 294,923 |
| nssv15697769 | Remapped | Perfect | NC_000006.12:g.(?_ 254283)_(294923_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,283 | 294,923 |
| nssv15697883 | Remapped | Perfect | NC_000006.12:g.(?_ 254283)_(294923_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,283 | 294,923 |
| nssv15702127 | Remapped | Perfect | NC_000006.12:g.(?_ 254283)_(294923_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,283 | 294,923 |
| nssv15611659 | Submitted genomic | NC_000006.11:g.(?_ 254283)_(294923_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,283 | 294,923 | ||
| nssv15625074 | Submitted genomic | NC_000006.11:g.(?_ 254283)_(294923_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,283 | 294,923 | ||
| nssv15633357 | Submitted genomic | NC_000006.11:g.(?_ 254283)_(294923_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,283 | 294,923 | ||
| nssv15648953 | Submitted genomic | NC_000006.11:g.(?_ 254283)_(294923_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,283 | 294,923 | ||
| nssv15649713 | Submitted genomic | NC_000006.11:g.(?_ 254283)_(294923_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,283 | 294,923 | ||
| nssv15651472 | Submitted genomic | NC_000006.11:g.(?_ 254283)_(294923_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,283 | 294,923 | ||
| nssv15657693 | Submitted genomic | NC_000006.11:g.(?_ 254283)_(294923_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,283 | 294,923 | ||
| nssv15687152 | Submitted genomic | NC_000006.11:g.(?_ 254283)_(294923_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,283 | 294,923 | ||
| nssv15697769 | Submitted genomic | NC_000006.11:g.(?_ 254283)_(294923_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,283 | 294,923 | ||
| nssv15697883 | Submitted genomic | NC_000006.11:g.(?_ 254283)_(294923_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,283 | 294,923 | ||
| nssv15702127 | Submitted genomic | NC_000006.11:g.(?_ 254283)_(294923_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,283 | 294,923 |