nsv3318596
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,070
- 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: 914 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 916 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318596 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 23,810,341 | 23,816,410 |
| nsv3318596 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 24,055,488 | 24,061,557 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14468238 | copy number loss | M2136 | SNP array | SNP genotyping analysis | 54 |
| nssv14468426 | copy number loss | M2152 | SNP array | SNP genotyping analysis | 13 |
| nssv14468970 | copy number loss | M2193 | SNP array | SNP genotyping analysis | 17 |
| nssv14470096 | copy number loss | M2307 | SNP array | SNP genotyping analysis | 16 |
| nssv14471012 | copy number loss | M2399 | SNP array | SNP genotyping analysis | 15 |
| nssv14471440 | copy number loss | M2452 | SNP array | SNP genotyping analysis | 23 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14468238 | Remapped | Perfect | NC_000015.10:g.(?_ 23810341)_(2381641 0_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,810,341 | 23,816,410 |
| nssv14468426 | Remapped | Perfect | NC_000015.10:g.(?_ 23810341)_(2381641 0_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,810,341 | 23,816,410 |
| nssv14468970 | Remapped | Perfect | NC_000015.10:g.(?_ 23810341)_(2381641 0_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,810,341 | 23,816,410 |
| nssv14470096 | Remapped | Perfect | NC_000015.10:g.(?_ 23810341)_(2381641 0_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,810,341 | 23,816,410 |
| nssv14471012 | Remapped | Perfect | NC_000015.10:g.(?_ 23810341)_(2381641 0_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,810,341 | 23,816,410 |
| nssv14471440 | Remapped | Perfect | NC_000015.10:g.(?_ 23810341)_(2381641 0_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,810,341 | 23,816,410 |
| nssv14468238 | Submitted genomic | NC_000015.9:g.(?_2 4055488)_(24061557 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,055,488 | 24,061,557 | ||
| nssv14468426 | Submitted genomic | NC_000015.9:g.(?_2 4055488)_(24061557 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,055,488 | 24,061,557 | ||
| nssv14468970 | Submitted genomic | NC_000015.9:g.(?_2 4055488)_(24061557 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,055,488 | 24,061,557 | ||
| nssv14470096 | Submitted genomic | NC_000015.9:g.(?_2 4055488)_(24061557 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,055,488 | 24,061,557 | ||
| nssv14471012 | Submitted genomic | NC_000015.9:g.(?_2 4055488)_(24061557 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,055,488 | 24,061,557 | ||
| nssv14471440 | Submitted genomic | NC_000015.9:g.(?_2 4055488)_(24061557 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,055,488 | 24,061,557 |