nsv3317771
- 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:29,767
- 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: 611 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 611 SVs from 80 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3317771 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 128,663,415 | 128,693,181 |
| nsv3317771 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 128,382,258 | 128,412,024 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14468775 | copy number gain | M2180 | SNP array | SNP genotyping analysis | 12 |
| nssv14469542 | copy number gain | M2247 | SNP array | SNP genotyping analysis | 20 |
| nssv14470014 | copy number gain | M2297 | SNP array | SNP genotyping analysis | 19 |
| nssv14470065 | copy number gain | M2304 | SNP array | SNP genotyping analysis | 18 |
| nssv14470131 | copy number gain | M2314 | SNP array | SNP genotyping analysis | 15 |
| nssv14470314 | copy number gain | M2327 | SNP array | SNP genotyping analysis | 17 |
| nssv14470816 | copy number gain | M2383 | SNP array | SNP genotyping analysis | 23 |
| nssv14471267 | copy number gain | M2428 | SNP array | SNP genotyping analysis | 23 |
| nssv14471757 | copy number gain | M2488 | SNP array | SNP genotyping analysis | 18 |
| nssv14471867 | copy number gain | M2498 | SNP array | SNP genotyping analysis | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14468775 | Remapped | Perfect | NC_000003.12:g.(?_ 128663415)_(128693 181_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,663,415 | 128,693,181 |
| nssv14469542 | Remapped | Perfect | NC_000003.12:g.(?_ 128663415)_(128693 181_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,663,415 | 128,693,181 |
| nssv14470014 | Remapped | Perfect | NC_000003.12:g.(?_ 128663415)_(128693 181_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,663,415 | 128,693,181 |
| nssv14470065 | Remapped | Perfect | NC_000003.12:g.(?_ 128663415)_(128693 181_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,663,415 | 128,693,181 |
| nssv14470131 | Remapped | Perfect | NC_000003.12:g.(?_ 128663415)_(128693 181_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,663,415 | 128,693,181 |
| nssv14470314 | Remapped | Perfect | NC_000003.12:g.(?_ 128663415)_(128693 181_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,663,415 | 128,693,181 |
| nssv14470816 | Remapped | Perfect | NC_000003.12:g.(?_ 128663415)_(128693 181_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,663,415 | 128,693,181 |
| nssv14471267 | Remapped | Perfect | NC_000003.12:g.(?_ 128663415)_(128693 181_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,663,415 | 128,693,181 |
| nssv14471757 | Remapped | Perfect | NC_000003.12:g.(?_ 128663415)_(128693 181_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,663,415 | 128,693,181 |
| nssv14471867 | Remapped | Perfect | NC_000003.12:g.(?_ 128663415)_(128693 181_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,663,415 | 128,693,181 |
| nssv14468775 | Submitted genomic | NC_000003.11:g.(?_ 128382258)_(128412 024_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 128,382,258 | 128,412,024 | ||
| nssv14469542 | Submitted genomic | NC_000003.11:g.(?_ 128382258)_(128412 024_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 128,382,258 | 128,412,024 | ||
| nssv14470014 | Submitted genomic | NC_000003.11:g.(?_ 128382258)_(128412 024_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 128,382,258 | 128,412,024 | ||
| nssv14470065 | Submitted genomic | NC_000003.11:g.(?_ 128382258)_(128412 024_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 128,382,258 | 128,412,024 | ||
| nssv14470131 | Submitted genomic | NC_000003.11:g.(?_ 128382258)_(128412 024_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 128,382,258 | 128,412,024 | ||
| nssv14470314 | Submitted genomic | NC_000003.11:g.(?_ 128382258)_(128412 024_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 128,382,258 | 128,412,024 | ||
| nssv14470816 | Submitted genomic | NC_000003.11:g.(?_ 128382258)_(128412 024_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 128,382,258 | 128,412,024 | ||
| nssv14471267 | Submitted genomic | NC_000003.11:g.(?_ 128382258)_(128412 024_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 128,382,258 | 128,412,024 | ||
| nssv14471757 | Submitted genomic | NC_000003.11:g.(?_ 128382258)_(128412 024_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 128,382,258 | 128,412,024 | ||
| nssv14471867 | Submitted genomic | NC_000003.11:g.(?_ 128382258)_(128412 024_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 128,382,258 | 128,412,024 |