nsv3318924
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:16,651
- 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: 483 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 483 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318924 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 97,271,952 | 97,288,602 |
| nsv3318924 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 97,815,182 | 97,831,832 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14468150 | copy number loss | M2132 | SNP array | SNP genotyping analysis | 25 |
| nssv14468806 | copy number loss | M2182 | SNP array | SNP genotyping analysis | 32 |
| nssv14468913 | copy number loss | M2189 | SNP array | SNP genotyping analysis | 14 |
| nssv14468972 | copy number loss | M2193 | SNP array | SNP genotyping analysis | 17 |
| nssv14468988 | copy number loss | M2194 | SNP array | SNP genotyping analysis | 21 |
| nssv14469143 | copy number loss | M2209 | SNP array | SNP genotyping analysis | 12 |
| nssv14469172 | copy number loss | M2212 | SNP array | SNP genotyping analysis | 15 |
| nssv14469650 | copy number loss | M2257 | SNP array | SNP genotyping analysis | 24 |
| nssv14469863 | copy number loss | M2277 | SNP array | SNP genotyping analysis | 14 |
| nssv14470147 | copy number loss | M2315 | SNP array | SNP genotyping analysis | 17 |
| nssv14470870 | copy number loss | M2388 | SNP array | SNP genotyping analysis | 18 |
| nssv14471152 | copy number loss | M2418 | SNP array | SNP genotyping analysis | 18 |
| nssv14471908 | copy number loss | M2505 | SNP array | SNP genotyping analysis | 15 |
| nssv14471923 | copy number loss | M2506 | SNP array | SNP genotyping analysis | 15 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14468150 | Remapped | Perfect | NC_000015.10:g.(?_ 97271952)_(9728860 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 97,271,952 | 97,288,602 |
| nssv14468806 | Remapped | Perfect | NC_000015.10:g.(?_ 97271952)_(9728860 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 97,271,952 | 97,288,602 |
| nssv14468913 | Remapped | Perfect | NC_000015.10:g.(?_ 97271952)_(9728860 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 97,271,952 | 97,288,602 |
| nssv14468972 | Remapped | Perfect | NC_000015.10:g.(?_ 97271952)_(9728860 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 97,271,952 | 97,288,602 |
| nssv14468988 | Remapped | Perfect | NC_000015.10:g.(?_ 97271952)_(9728860 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 97,271,952 | 97,288,602 |
| nssv14469143 | Remapped | Perfect | NC_000015.10:g.(?_ 97271952)_(9728860 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 97,271,952 | 97,288,602 |
| nssv14469172 | Remapped | Perfect | NC_000015.10:g.(?_ 97271952)_(9728860 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 97,271,952 | 97,288,602 |
| nssv14469650 | Remapped | Perfect | NC_000015.10:g.(?_ 97271952)_(9728860 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 97,271,952 | 97,288,602 |
| nssv14469863 | Remapped | Perfect | NC_000015.10:g.(?_ 97271952)_(9728860 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 97,271,952 | 97,288,602 |
| nssv14470147 | Remapped | Perfect | NC_000015.10:g.(?_ 97271952)_(9728860 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 97,271,952 | 97,288,602 |
| nssv14470870 | Remapped | Perfect | NC_000015.10:g.(?_ 97271952)_(9728860 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 97,271,952 | 97,288,602 |
| nssv14471152 | Remapped | Perfect | NC_000015.10:g.(?_ 97271952)_(9728860 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 97,271,952 | 97,288,602 |
| nssv14471908 | Remapped | Perfect | NC_000015.10:g.(?_ 97271952)_(9728860 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 97,271,952 | 97,288,602 |
| nssv14471923 | Remapped | Perfect | NC_000015.10:g.(?_ 97271952)_(9728860 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 97,271,952 | 97,288,602 |
| nssv14468150 | Submitted genomic | NC_000015.9:g.(?_9 7815182)_(97831832 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 97,815,182 | 97,831,832 | ||
| nssv14468806 | Submitted genomic | NC_000015.9:g.(?_9 7815182)_(97831832 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 97,815,182 | 97,831,832 | ||
| nssv14468913 | Submitted genomic | NC_000015.9:g.(?_9 7815182)_(97831832 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 97,815,182 | 97,831,832 | ||
| nssv14468972 | Submitted genomic | NC_000015.9:g.(?_9 7815182)_(97831832 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 97,815,182 | 97,831,832 | ||
| nssv14468988 | Submitted genomic | NC_000015.9:g.(?_9 7815182)_(97831832 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 97,815,182 | 97,831,832 | ||
| nssv14469143 | Submitted genomic | NC_000015.9:g.(?_9 7815182)_(97831832 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 97,815,182 | 97,831,832 | ||
| nssv14469172 | Submitted genomic | NC_000015.9:g.(?_9 7815182)_(97831832 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 97,815,182 | 97,831,832 | ||
| nssv14469650 | Submitted genomic | NC_000015.9:g.(?_9 7815182)_(97831832 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 97,815,182 | 97,831,832 | ||
| nssv14469863 | Submitted genomic | NC_000015.9:g.(?_9 7815182)_(97831832 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 97,815,182 | 97,831,832 | ||
| nssv14470147 | Submitted genomic | NC_000015.9:g.(?_9 7815182)_(97831832 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 97,815,182 | 97,831,832 | ||
| nssv14470870 | Submitted genomic | NC_000015.9:g.(?_9 7815182)_(97831832 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 97,815,182 | 97,831,832 | ||
| nssv14471152 | Submitted genomic | NC_000015.9:g.(?_9 7815182)_(97831832 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 97,815,182 | 97,831,832 | ||
| nssv14471908 | Submitted genomic | NC_000015.9:g.(?_9 7815182)_(97831832 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 97,815,182 | 97,831,832 | ||
| nssv14471923 | Submitted genomic | NC_000015.9:g.(?_9 7815182)_(97831832 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 97,815,182 | 97,831,832 |