nsv3318662
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,001
- 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: 179 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 179 SVs from 43 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3318662 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 55,790,905 | 55,796,905 |
nsv3318662 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 56,083,103 | 56,089,103 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14469373 | copy number loss | M2231 | SNP array | SNP genotyping analysis | 18 |
nssv14469862 | copy number loss | M2277 | SNP array | SNP genotyping analysis | 14 |
nssv14470146 | copy number loss | M2315 | SNP array | SNP genotyping analysis | 17 |
nssv14470237 | copy number loss | M2322 | SNP array | SNP genotyping analysis | 16 |
nssv14470755 | copy number loss | M2373 | SNP array | SNP genotyping analysis | 15 |
nssv14471462 | copy number loss | M2454 | SNP array | SNP genotyping analysis | 17 |
nssv14471986 | copy number loss | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv14469373 | Remapped | Perfect | NC_000015.10:g.(?_ 55790905)_(5579690 5_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 55,790,905 | 55,796,905 |
nssv14469862 | Remapped | Perfect | NC_000015.10:g.(?_ 55790905)_(5579690 5_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 55,790,905 | 55,796,905 |
nssv14470146 | Remapped | Perfect | NC_000015.10:g.(?_ 55790905)_(5579690 5_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 55,790,905 | 55,796,905 |
nssv14470237 | Remapped | Perfect | NC_000015.10:g.(?_ 55790905)_(5579690 5_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 55,790,905 | 55,796,905 |
nssv14470755 | Remapped | Perfect | NC_000015.10:g.(?_ 55790905)_(5579690 5_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 55,790,905 | 55,796,905 |
nssv14471462 | Remapped | Perfect | NC_000015.10:g.(?_ 55790905)_(5579690 5_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 55,790,905 | 55,796,905 |
nssv14471986 | Remapped | Perfect | NC_000015.10:g.(?_ 55790905)_(5579690 5_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 55,790,905 | 55,796,905 |
nssv14469373 | Submitted genomic | NC_000015.9:g.(?_5 6083103)_(56089103 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 56,083,103 | 56,089,103 | ||
nssv14469862 | Submitted genomic | NC_000015.9:g.(?_5 6083103)_(56089103 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 56,083,103 | 56,089,103 | ||
nssv14470146 | Submitted genomic | NC_000015.9:g.(?_5 6083103)_(56089103 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 56,083,103 | 56,089,103 | ||
nssv14470237 | Submitted genomic | NC_000015.9:g.(?_5 6083103)_(56089103 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 56,083,103 | 56,089,103 | ||
nssv14470755 | Submitted genomic | NC_000015.9:g.(?_5 6083103)_(56089103 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 56,083,103 | 56,089,103 | ||
nssv14471462 | Submitted genomic | NC_000015.9:g.(?_5 6083103)_(56089103 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 56,083,103 | 56,089,103 | ||
nssv14471986 | Submitted genomic | NC_000015.9:g.(?_5 6083103)_(56089103 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 56,083,103 | 56,089,103 |