nsv3318457
- Organism: Homo sapiens
- Study:nstd157 (Frenkel 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:113,604
- Publication(s):Frenkel 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: 2240 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 2240 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318457 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 266,035 | 379,638 |
| nsv3318457 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 266,035 | 379,638 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14468516 | copy number loss | M2160 | SNP array | SNP genotyping analysis | 22 |
| nssv14468569 | copy number loss | M2165 | SNP array | SNP genotyping analysis | 17 |
| nssv14469605 | copy number loss | M2251 | SNP array | SNP genotyping analysis | 12 |
| nssv14469770 | copy number loss | M2266 | SNP array | SNP genotyping analysis | 28 |
| nssv14470283 | copy number loss | M2324 | SNP array | SNP genotyping analysis | 19 |
| nssv14470503 | copy number loss | M2351 | SNP array | SNP genotyping analysis | 14 |
| nssv14470548 | copy number loss | M2356 | SNP array | SNP genotyping analysis | 15 |
| nssv14470845 | copy number loss | M2386 | SNP array | SNP genotyping analysis | 20 |
| nssv14471218 | copy number loss | M2422 | SNP array | SNP genotyping analysis | 19 |
| nssv14471254 | copy number loss | M2425 | SNP array | SNP genotyping analysis | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14468516 | Remapped | Perfect | NC_000006.12:g.(?_ 266035)_(379638_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 266,035 | 379,638 |
| nssv14468569 | Remapped | Perfect | NC_000006.12:g.(?_ 266035)_(379638_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 266,035 | 379,638 |
| nssv14469605 | Remapped | Perfect | NC_000006.12:g.(?_ 266035)_(379638_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 266,035 | 379,638 |
| nssv14469770 | Remapped | Perfect | NC_000006.12:g.(?_ 266035)_(379638_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 266,035 | 379,638 |
| nssv14470283 | Remapped | Perfect | NC_000006.12:g.(?_ 266035)_(379638_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 266,035 | 379,638 |
| nssv14470503 | Remapped | Perfect | NC_000006.12:g.(?_ 266035)_(379638_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 266,035 | 379,638 |
| nssv14470548 | Remapped | Perfect | NC_000006.12:g.(?_ 266035)_(379638_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 266,035 | 379,638 |
| nssv14470845 | Remapped | Perfect | NC_000006.12:g.(?_ 266035)_(379638_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 266,035 | 379,638 |
| nssv14471218 | Remapped | Perfect | NC_000006.12:g.(?_ 266035)_(379638_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 266,035 | 379,638 |
| nssv14471254 | Remapped | Perfect | NC_000006.12:g.(?_ 266035)_(379638_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 266,035 | 379,638 |
| nssv14468516 | Submitted genomic | NC_000006.11:g.(?_ 266035)_(379638_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 266,035 | 379,638 | ||
| nssv14468569 | Submitted genomic | NC_000006.11:g.(?_ 266035)_(379638_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 266,035 | 379,638 | ||
| nssv14469605 | Submitted genomic | NC_000006.11:g.(?_ 266035)_(379638_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 266,035 | 379,638 | ||
| nssv14469770 | Submitted genomic | NC_000006.11:g.(?_ 266035)_(379638_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 266,035 | 379,638 | ||
| nssv14470283 | Submitted genomic | NC_000006.11:g.(?_ 266035)_(379638_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 266,035 | 379,638 | ||
| nssv14470503 | Submitted genomic | NC_000006.11:g.(?_ 266035)_(379638_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 266,035 | 379,638 | ||
| nssv14470548 | Submitted genomic | NC_000006.11:g.(?_ 266035)_(379638_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 266,035 | 379,638 | ||
| nssv14470845 | Submitted genomic | NC_000006.11:g.(?_ 266035)_(379638_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 266,035 | 379,638 | ||
| nssv14471218 | Submitted genomic | NC_000006.11:g.(?_ 266035)_(379638_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 266,035 | 379,638 | ||
| nssv14471254 | Submitted genomic | NC_000006.11:g.(?_ 266035)_(379638_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 266,035 | 379,638 |