nsv3318833
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:226,874
- 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: 3161 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 3390 SVs from 107 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318833 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 19,729,152 | 19,956,025 |
| nsv3318833 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 20,197,311 | 20,424,184 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14467817 | copy number gain | M2111 | SNP array | SNP genotyping analysis | 18 |
| nssv14467952 | copy number gain | M2121 | SNP array | SNP genotyping analysis | 17 |
| nssv14468742 | copy number gain | M2178 | SNP array | SNP genotyping analysis | 15 |
| nssv14469142 | copy number gain | M2209 | SNP array | SNP genotyping analysis | 12 |
| nssv14469200 | copy number gain | M2216 | SNP array | SNP genotyping analysis | 19 |
| nssv14469645 | copy number gain | M2257 | SNP array | SNP genotyping analysis | 24 |
| nssv14470194 | copy number gain | M2320 | SNP array | SNP genotyping analysis | 20 |
| nssv14470654 | copy number gain | M2366 | SNP array | SNP genotyping analysis | 23 |
| nssv14470678 | copy number gain | M2369 | SNP array | SNP genotyping analysis | 22 |
| nssv14470807 | copy number gain | M2383 | SNP array | SNP genotyping analysis | 23 |
| nssv14470933 | copy number gain | M2394 | SNP array | SNP genotyping analysis | 15 |
| nssv14471028 | copy number gain | M2400 | SNP array | SNP genotyping analysis | 12 |
| nssv14471188 | copy number gain | M2421 | SNP array | SNP genotyping analysis | 18 |
| nssv14471241 | copy number gain | M2425 | SNP array | SNP genotyping analysis | 21 |
| nssv14471284 | copy number gain | M2430 | SNP array | SNP genotyping analysis | 16 |
| nssv14471375 | copy number gain | M2437 | SNP array | SNP genotyping analysis | 23 |
| nssv14471677 | copy number gain | M2477 | SNP array | SNP genotyping analysis | 20 |
| nssv14471737 | copy number gain | M2487 | SNP array | SNP genotyping analysis | 11 |
| nssv14471785 | copy number gain | M2494 | SNP array | SNP genotyping analysis | 17 |
| nssv14471983 | copy number gain | M2513 | SNP array | SNP genotyping analysis | 19 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14467817 | Remapped | Perfect | NC_000014.9:g.(?_1 9729152)_(19956025 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,729,152 | 19,956,025 |
| nssv14467952 | Remapped | Perfect | NC_000014.9:g.(?_1 9729152)_(19956025 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,729,152 | 19,956,025 |
| nssv14468742 | Remapped | Perfect | NC_000014.9:g.(?_1 9729152)_(19956025 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,729,152 | 19,956,025 |
| nssv14469142 | Remapped | Perfect | NC_000014.9:g.(?_1 9729152)_(19956025 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,729,152 | 19,956,025 |
| nssv14469200 | Remapped | Perfect | NC_000014.9:g.(?_1 9729152)_(19956025 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,729,152 | 19,956,025 |
| nssv14469645 | Remapped | Perfect | NC_000014.9:g.(?_1 9729152)_(19956025 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,729,152 | 19,956,025 |
| nssv14470194 | Remapped | Perfect | NC_000014.9:g.(?_1 9729152)_(19956025 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,729,152 | 19,956,025 |
| nssv14470654 | Remapped | Perfect | NC_000014.9:g.(?_1 9729152)_(19956025 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,729,152 | 19,956,025 |
| nssv14470678 | Remapped | Perfect | NC_000014.9:g.(?_1 9729152)_(19956025 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,729,152 | 19,956,025 |
| nssv14470807 | Remapped | Perfect | NC_000014.9:g.(?_1 9729152)_(19956025 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,729,152 | 19,956,025 |
| nssv14470933 | Remapped | Perfect | NC_000014.9:g.(?_1 9729152)_(19956025 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,729,152 | 19,956,025 |
| nssv14471028 | Remapped | Perfect | NC_000014.9:g.(?_1 9729152)_(19956025 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,729,152 | 19,956,025 |
| nssv14471188 | Remapped | Perfect | NC_000014.9:g.(?_1 9729152)_(19956025 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,729,152 | 19,956,025 |
| nssv14471241 | Remapped | Perfect | NC_000014.9:g.(?_1 9729152)_(19956025 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,729,152 | 19,956,025 |
| nssv14471284 | Remapped | Perfect | NC_000014.9:g.(?_1 9729152)_(19956025 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,729,152 | 19,956,025 |
| nssv14471375 | Remapped | Perfect | NC_000014.9:g.(?_1 9729152)_(19956025 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,729,152 | 19,956,025 |
| nssv14471677 | Remapped | Perfect | NC_000014.9:g.(?_1 9729152)_(19956025 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,729,152 | 19,956,025 |
| nssv14471737 | Remapped | Perfect | NC_000014.9:g.(?_1 9729152)_(19956025 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,729,152 | 19,956,025 |
| nssv14471785 | Remapped | Perfect | NC_000014.9:g.(?_1 9729152)_(19956025 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,729,152 | 19,956,025 |
| nssv14471983 | Remapped | Perfect | NC_000014.9:g.(?_1 9729152)_(19956025 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,729,152 | 19,956,025 |
| nssv14467817 | Submitted genomic | NC_000014.8:g.(?_2 0197311)_(20424184 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,197,311 | 20,424,184 | ||
| nssv14467952 | Submitted genomic | NC_000014.8:g.(?_2 0197311)_(20424184 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,197,311 | 20,424,184 | ||
| nssv14468742 | Submitted genomic | NC_000014.8:g.(?_2 0197311)_(20424184 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,197,311 | 20,424,184 | ||
| nssv14469142 | Submitted genomic | NC_000014.8:g.(?_2 0197311)_(20424184 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,197,311 | 20,424,184 | ||
| nssv14469200 | Submitted genomic | NC_000014.8:g.(?_2 0197311)_(20424184 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,197,311 | 20,424,184 | ||
| nssv14469645 | Submitted genomic | NC_000014.8:g.(?_2 0197311)_(20424184 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,197,311 | 20,424,184 | ||
| nssv14470194 | Submitted genomic | NC_000014.8:g.(?_2 0197311)_(20424184 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,197,311 | 20,424,184 | ||
| nssv14470654 | Submitted genomic | NC_000014.8:g.(?_2 0197311)_(20424184 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,197,311 | 20,424,184 | ||
| nssv14470678 | Submitted genomic | NC_000014.8:g.(?_2 0197311)_(20424184 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,197,311 | 20,424,184 | ||
| nssv14470807 | Submitted genomic | NC_000014.8:g.(?_2 0197311)_(20424184 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,197,311 | 20,424,184 | ||
| nssv14470933 | Submitted genomic | NC_000014.8:g.(?_2 0197311)_(20424184 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,197,311 | 20,424,184 | ||
| nssv14471028 | Submitted genomic | NC_000014.8:g.(?_2 0197311)_(20424184 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,197,311 | 20,424,184 | ||
| nssv14471188 | Submitted genomic | NC_000014.8:g.(?_2 0197311)_(20424184 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,197,311 | 20,424,184 | ||
| nssv14471241 | Submitted genomic | NC_000014.8:g.(?_2 0197311)_(20424184 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,197,311 | 20,424,184 | ||
| nssv14471284 | Submitted genomic | NC_000014.8:g.(?_2 0197311)_(20424184 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,197,311 | 20,424,184 | ||
| nssv14471375 | Submitted genomic | NC_000014.8:g.(?_2 0197311)_(20424184 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,197,311 | 20,424,184 | ||
| nssv14471677 | Submitted genomic | NC_000014.8:g.(?_2 0197311)_(20424184 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,197,311 | 20,424,184 | ||
| nssv14471737 | Submitted genomic | NC_000014.8:g.(?_2 0197311)_(20424184 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,197,311 | 20,424,184 | ||
| nssv14471785 | Submitted genomic | NC_000014.8:g.(?_2 0197311)_(20424184 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,197,311 | 20,424,184 | ||
| nssv14471983 | Submitted genomic | NC_000014.8:g.(?_2 0197311)_(20424184 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,197,311 | 20,424,184 |