nsv3317717
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:26
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,055
- 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: 263 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 263 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3317717 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nsv3317717 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14467789 | copy number loss | M2108 | SNP array | SNP genotyping analysis | 16 |
| nssv14468297 | copy number loss | M2138 | SNP array | SNP genotyping analysis | 27 |
| nssv14468395 | copy number loss | M2148 | SNP array | SNP genotyping analysis | 16 |
| nssv14468557 | copy number loss | M2165 | SNP array | SNP genotyping analysis | 17 |
| nssv14468590 | copy number loss | M2167 | SNP array | SNP genotyping analysis | 21 |
| nssv14468727 | copy number loss | M2177 | SNP array | SNP genotyping analysis | 15 |
| nssv14468753 | copy number loss | M2179 | SNP array | SNP genotyping analysis | 19 |
| nssv14468832 | copy number loss | M2185 | SNP array | SNP genotyping analysis | 20 |
| nssv14469119 | copy number loss | M2203 | SNP array | SNP genotyping analysis | 16 |
| nssv14469307 | copy number loss | M2224 | SNP array | SNP genotyping analysis | 16 |
| nssv14469498 | copy number loss | M2243 | SNP array | SNP genotyping analysis | 24 |
| nssv14469608 | copy number loss | M2254 | SNP array | SNP genotyping analysis | 14 |
| nssv14469751 | copy number loss | M2266 | SNP array | SNP genotyping analysis | 28 |
| nssv14470044 | copy number loss | M2300 | SNP array | SNP genotyping analysis | 14 |
| nssv14470159 | copy number loss | M2318 | SNP array | SNP genotyping analysis | 12 |
| nssv14470234 | copy number loss | M2322 | SNP array | SNP genotyping analysis | 16 |
| nssv14470465 | copy number loss | M2342 | SNP array | SNP genotyping analysis | 13 |
| nssv14470510 | copy number loss | M2354 | SNP array | SNP genotyping analysis | 21 |
| nssv14470677 | copy number loss | M2369 | SNP array | SNP genotyping analysis | 22 |
| nssv14471066 | copy number loss | M2404 | SNP array | SNP genotyping analysis | 19 |
| nssv14471087 | copy number loss | M2406 | SNP array | SNP genotyping analysis | 18 |
| nssv14471148 | copy number loss | M2418 | SNP array | SNP genotyping analysis | 18 |
| nssv14471736 | copy number loss | M2487 | SNP array | SNP genotyping analysis | 11 |
| nssv14471784 | copy number loss | M2494 | SNP array | SNP genotyping analysis | 17 |
| nssv14471803 | copy number loss | M2495 | SNP array | SNP genotyping analysis | 13 |
| nssv14471841 | copy number loss | M2497 | SNP array | SNP genotyping analysis | 16 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14467789 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14468297 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14468395 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14468557 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14468590 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14468727 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14468753 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14468832 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14469119 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14469307 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14469498 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14469608 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14469751 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14470044 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14470159 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14470234 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14470465 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14470510 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14470677 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14471066 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14471087 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14471148 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14471736 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14471784 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14471803 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14471841 | Remapped | Perfect | NC_000012.12:g.(?_ 42627629)_(4263268 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 42,627,629 | 42,632,683 |
| nssv14467789 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14468297 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14468395 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14468557 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14468590 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14468727 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14468753 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14468832 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14469119 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14469307 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14469498 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14469608 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14469751 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14470044 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14470159 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14470234 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14470465 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14470510 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14470677 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14471066 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14471087 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14471148 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14471736 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14471784 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14471803 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 | ||
| nssv14471841 | Submitted genomic | NC_000012.11:g.(?_ 43021431)_(4302648 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,021,431 | 43,026,485 |