nsv3317918
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:14,959
- 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: 640 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 645 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3317918 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 43,402,991 | 43,417,949 |
| nsv3317918 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 44,822,871 | 44,837,829 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14468343 | copy number gain | M2143 | SNP array | SNP genotyping analysis | 20 |
| nssv14468679 | copy number gain | M2175 | SNP array | SNP genotyping analysis | 20 |
| nssv14470166 | copy number gain | M2318 | SNP array | SNP genotyping analysis | 12 |
| nssv14470222 | copy number gain | M2321 | SNP array | SNP genotyping analysis | 20 |
| nssv14470326 | copy number gain | M2331 | SNP array | SNP genotyping analysis | 21 |
| nssv14470351 | copy number gain | M2333 | SNP array | SNP genotyping analysis | 19 |
| nssv14470859 | copy number gain | M2387 | SNP array | SNP genotyping analysis | 15 |
| nssv14471121 | copy number gain | M2408 | SNP array | SNP genotyping analysis | 13 |
| nssv14471333 | copy number gain | M2433 | SNP array | SNP genotyping analysis | 21 |
| nssv14471637 | copy number gain | M2468 | SNP array | SNP genotyping analysis | 15 |
| nssv14471771 | copy number gain | M2492 | SNP array | SNP genotyping analysis | 19 |
| nssv14471823 | copy number gain | M2496 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14468343 | Remapped | Perfect | NC_000021.9:g.(?_4 3402991)_(43417949 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,402,991 | 43,417,949 |
| nssv14468679 | Remapped | Perfect | NC_000021.9:g.(?_4 3402991)_(43417949 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,402,991 | 43,417,949 |
| nssv14470166 | Remapped | Perfect | NC_000021.9:g.(?_4 3402991)_(43417949 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,402,991 | 43,417,949 |
| nssv14470222 | Remapped | Perfect | NC_000021.9:g.(?_4 3402991)_(43417949 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,402,991 | 43,417,949 |
| nssv14470326 | Remapped | Perfect | NC_000021.9:g.(?_4 3402991)_(43417949 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,402,991 | 43,417,949 |
| nssv14470351 | Remapped | Perfect | NC_000021.9:g.(?_4 3402991)_(43417949 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,402,991 | 43,417,949 |
| nssv14470859 | Remapped | Perfect | NC_000021.9:g.(?_4 3402991)_(43417949 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,402,991 | 43,417,949 |
| nssv14471121 | Remapped | Perfect | NC_000021.9:g.(?_4 3402991)_(43417949 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,402,991 | 43,417,949 |
| nssv14471333 | Remapped | Perfect | NC_000021.9:g.(?_4 3402991)_(43417949 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,402,991 | 43,417,949 |
| nssv14471637 | Remapped | Perfect | NC_000021.9:g.(?_4 3402991)_(43417949 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,402,991 | 43,417,949 |
| nssv14471771 | Remapped | Perfect | NC_000021.9:g.(?_4 3402991)_(43417949 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,402,991 | 43,417,949 |
| nssv14471823 | Remapped | Perfect | NC_000021.9:g.(?_4 3402991)_(43417949 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,402,991 | 43,417,949 |
| nssv14468343 | Submitted genomic | NC_000021.8:g.(?_4 4822871)_(44837829 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,871 | 44,837,829 | ||
| nssv14468679 | Submitted genomic | NC_000021.8:g.(?_4 4822871)_(44837829 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,871 | 44,837,829 | ||
| nssv14470166 | Submitted genomic | NC_000021.8:g.(?_4 4822871)_(44837829 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,871 | 44,837,829 | ||
| nssv14470222 | Submitted genomic | NC_000021.8:g.(?_4 4822871)_(44837829 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,871 | 44,837,829 | ||
| nssv14470326 | Submitted genomic | NC_000021.8:g.(?_4 4822871)_(44837829 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,871 | 44,837,829 | ||
| nssv14470351 | Submitted genomic | NC_000021.8:g.(?_4 4822871)_(44837829 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,871 | 44,837,829 | ||
| nssv14470859 | Submitted genomic | NC_000021.8:g.(?_4 4822871)_(44837829 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,871 | 44,837,829 | ||
| nssv14471121 | Submitted genomic | NC_000021.8:g.(?_4 4822871)_(44837829 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,871 | 44,837,829 | ||
| nssv14471333 | Submitted genomic | NC_000021.8:g.(?_4 4822871)_(44837829 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,871 | 44,837,829 | ||
| nssv14471637 | Submitted genomic | NC_000021.8:g.(?_4 4822871)_(44837829 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,871 | 44,837,829 | ||
| nssv14471771 | Submitted genomic | NC_000021.8:g.(?_4 4822871)_(44837829 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,871 | 44,837,829 | ||
| nssv14471823 | Submitted genomic | NC_000021.8:g.(?_4 4822871)_(44837829 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,822,871 | 44,837,829 |