nsv3318220
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:21
- Validation:Not tested
- Clinical Assertions: No
- Region Size:113,899
- 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: 1524 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 1497 SVs from 97 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318220 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nsv3318220 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14467728 | copy number loss | M2101 | SNP array | SNP genotyping analysis | 20 |
| nssv14467769 | copy number loss | M2104 | SNP array | SNP genotyping analysis | 21 |
| nssv14467861 | copy number loss | M2113 | SNP array | SNP genotyping analysis | 15 |
| nssv14467974 | copy number loss | M2122 | SNP array | SNP genotyping analysis | 19 |
| nssv14468179 | copy number loss | M2133 | SNP array | SNP genotyping analysis | 15 |
| nssv14468342 | copy number loss | M2143 | SNP array | SNP genotyping analysis | 20 |
| nssv14468440 | copy number loss | M2155 | SNP array | SNP genotyping analysis | 15 |
| nssv14468458 | copy number loss | M2157 | SNP array | SNP genotyping analysis | 20 |
| nssv14468481 | copy number loss | M2158 | SNP array | SNP genotyping analysis | 19 |
| nssv14468492 | copy number loss | M2159 | SNP array | SNP genotyping analysis | 9 |
| nssv14469485 | copy number loss | M2240 | SNP array | SNP genotyping analysis | 13 |
| nssv14469651 | copy number loss | M2257 | SNP array | SNP genotyping analysis | 24 |
| nssv14469952 | copy number loss | M2291 | SNP array | SNP genotyping analysis | 38 |
| nssv14470557 | copy number loss | M2357 | SNP array | SNP genotyping analysis | 11 |
| nssv14470768 | copy number loss | M2374 | SNP array | SNP genotyping analysis | 13 |
| nssv14470837 | copy number loss | M2386 | SNP array | SNP genotyping analysis | 20 |
| nssv14471377 | copy number loss | M2437 | SNP array | SNP genotyping analysis | 23 |
| nssv14471443 | copy number loss | M2452 | SNP array | SNP genotyping analysis | 23 |
| nssv14471705 | copy number loss | M2482 | SNP array | SNP genotyping analysis | 21 |
| nssv14471861 | copy number loss | M2498 | SNP array | SNP genotyping analysis | 22 |
| nssv14471880 | copy number loss | M2501 | SNP array | SNP genotyping analysis | 18 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14467728 | Remapped | Perfect | NC_000019.10:g.(?_ 20418529)_(2053242 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nssv14467769 | Remapped | Perfect | NC_000019.10:g.(?_ 20418529)_(2053242 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nssv14467861 | Remapped | Perfect | NC_000019.10:g.(?_ 20418529)_(2053242 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nssv14467974 | Remapped | Perfect | NC_000019.10:g.(?_ 20418529)_(2053242 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nssv14468179 | Remapped | Perfect | NC_000019.10:g.(?_ 20418529)_(2053242 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nssv14468342 | Remapped | Perfect | NC_000019.10:g.(?_ 20418529)_(2053242 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nssv14468440 | Remapped | Perfect | NC_000019.10:g.(?_ 20418529)_(2053242 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nssv14468458 | Remapped | Perfect | NC_000019.10:g.(?_ 20418529)_(2053242 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nssv14468481 | Remapped | Perfect | NC_000019.10:g.(?_ 20418529)_(2053242 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nssv14468492 | Remapped | Perfect | NC_000019.10:g.(?_ 20418529)_(2053242 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nssv14469485 | Remapped | Perfect | NC_000019.10:g.(?_ 20418529)_(2053242 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nssv14469651 | Remapped | Perfect | NC_000019.10:g.(?_ 20418529)_(2053242 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nssv14469952 | Remapped | Perfect | NC_000019.10:g.(?_ 20418529)_(2053242 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nssv14470557 | Remapped | Perfect | NC_000019.10:g.(?_ 20418529)_(2053242 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nssv14470768 | Remapped | Perfect | NC_000019.10:g.(?_ 20418529)_(2053242 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nssv14470837 | Remapped | Perfect | NC_000019.10:g.(?_ 20418529)_(2053242 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nssv14471377 | Remapped | Perfect | NC_000019.10:g.(?_ 20418529)_(2053242 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nssv14471443 | Remapped | Perfect | NC_000019.10:g.(?_ 20418529)_(2053242 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nssv14471705 | Remapped | Perfect | NC_000019.10:g.(?_ 20418529)_(2053242 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nssv14471861 | Remapped | Perfect | NC_000019.10:g.(?_ 20418529)_(2053242 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nssv14471880 | Remapped | Perfect | NC_000019.10:g.(?_ 20418529)_(2053242 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,418,529 | 20,532,427 |
| nssv14467728 | Submitted genomic | NC_000019.9:g.(?_2 0601335)_(20715233 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 | ||
| nssv14467769 | Submitted genomic | NC_000019.9:g.(?_2 0601335)_(20715233 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 | ||
| nssv14467861 | Submitted genomic | NC_000019.9:g.(?_2 0601335)_(20715233 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 | ||
| nssv14467974 | Submitted genomic | NC_000019.9:g.(?_2 0601335)_(20715233 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 | ||
| nssv14468179 | Submitted genomic | NC_000019.9:g.(?_2 0601335)_(20715233 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 | ||
| nssv14468342 | Submitted genomic | NC_000019.9:g.(?_2 0601335)_(20715233 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 | ||
| nssv14468440 | Submitted genomic | NC_000019.9:g.(?_2 0601335)_(20715233 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 | ||
| nssv14468458 | Submitted genomic | NC_000019.9:g.(?_2 0601335)_(20715233 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 | ||
| nssv14468481 | Submitted genomic | NC_000019.9:g.(?_2 0601335)_(20715233 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 | ||
| nssv14468492 | Submitted genomic | NC_000019.9:g.(?_2 0601335)_(20715233 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 | ||
| nssv14469485 | Submitted genomic | NC_000019.9:g.(?_2 0601335)_(20715233 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 | ||
| nssv14469651 | Submitted genomic | NC_000019.9:g.(?_2 0601335)_(20715233 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 | ||
| nssv14469952 | Submitted genomic | NC_000019.9:g.(?_2 0601335)_(20715233 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 | ||
| nssv14470557 | Submitted genomic | NC_000019.9:g.(?_2 0601335)_(20715233 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 | ||
| nssv14470768 | Submitted genomic | NC_000019.9:g.(?_2 0601335)_(20715233 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 | ||
| nssv14470837 | Submitted genomic | NC_000019.9:g.(?_2 0601335)_(20715233 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 | ||
| nssv14471377 | Submitted genomic | NC_000019.9:g.(?_2 0601335)_(20715233 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 | ||
| nssv14471443 | Submitted genomic | NC_000019.9:g.(?_2 0601335)_(20715233 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 | ||
| nssv14471705 | Submitted genomic | NC_000019.9:g.(?_2 0601335)_(20715233 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 | ||
| nssv14471861 | Submitted genomic | NC_000019.9:g.(?_2 0601335)_(20715233 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 | ||
| nssv14471880 | Submitted genomic | NC_000019.9:g.(?_2 0601335)_(20715233 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,601,335 | 20,715,233 |