nsv3318348
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,326
- 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: 213 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 213 SVs from 48 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318348 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 85,552,680 | 85,560,005 |
| nsv3318348 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 85,263,724 | 85,271,049 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14468232 | copy number loss | M2136 | SNP array | SNP genotyping analysis | 54 |
| nssv14468574 | copy number loss | M2166 | SNP array | SNP genotyping analysis | 16 |
| nssv14468588 | copy number loss | M2167 | SNP array | SNP genotyping analysis | 21 |
| nssv14468886 | copy number loss | M2188 | SNP array | SNP genotyping analysis | 27 |
| nssv14469141 | copy number loss | M2209 | SNP array | SNP genotyping analysis | 12 |
| nssv14469859 | copy number loss | M2277 | SNP array | SNP genotyping analysis | 14 |
| nssv14470375 | copy number loss | M2337 | SNP array | SNP genotyping analysis | 36 |
| nssv14470952 | copy number loss | M2395 | SNP array | SNP genotyping analysis | 17 |
| nssv14471103 | copy number loss | M2407 | SNP array | SNP genotyping analysis | 15 |
| nssv14471205 | copy number loss | M2422 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14468232 | Remapped | Perfect | NC_000011.10:g.(?_ 85552680)_(8556000 5_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 85,552,680 | 85,560,005 |
| nssv14468574 | Remapped | Perfect | NC_000011.10:g.(?_ 85552680)_(8556000 5_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 85,552,680 | 85,560,005 |
| nssv14468588 | Remapped | Perfect | NC_000011.10:g.(?_ 85552680)_(8556000 5_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 85,552,680 | 85,560,005 |
| nssv14468886 | Remapped | Perfect | NC_000011.10:g.(?_ 85552680)_(8556000 5_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 85,552,680 | 85,560,005 |
| nssv14469141 | Remapped | Perfect | NC_000011.10:g.(?_ 85552680)_(8556000 5_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 85,552,680 | 85,560,005 |
| nssv14469859 | Remapped | Perfect | NC_000011.10:g.(?_ 85552680)_(8556000 5_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 85,552,680 | 85,560,005 |
| nssv14470375 | Remapped | Perfect | NC_000011.10:g.(?_ 85552680)_(8556000 5_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 85,552,680 | 85,560,005 |
| nssv14470952 | Remapped | Perfect | NC_000011.10:g.(?_ 85552680)_(8556000 5_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 85,552,680 | 85,560,005 |
| nssv14471103 | Remapped | Perfect | NC_000011.10:g.(?_ 85552680)_(8556000 5_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 85,552,680 | 85,560,005 |
| nssv14471205 | Remapped | Perfect | NC_000011.10:g.(?_ 85552680)_(8556000 5_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 85,552,680 | 85,560,005 |
| nssv14468232 | Submitted genomic | NC_000011.9:g.(?_8 5263724)_(85271049 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 85,263,724 | 85,271,049 | ||
| nssv14468574 | Submitted genomic | NC_000011.9:g.(?_8 5263724)_(85271049 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 85,263,724 | 85,271,049 | ||
| nssv14468588 | Submitted genomic | NC_000011.9:g.(?_8 5263724)_(85271049 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 85,263,724 | 85,271,049 | ||
| nssv14468886 | Submitted genomic | NC_000011.9:g.(?_8 5263724)_(85271049 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 85,263,724 | 85,271,049 | ||
| nssv14469141 | Submitted genomic | NC_000011.9:g.(?_8 5263724)_(85271049 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 85,263,724 | 85,271,049 | ||
| nssv14469859 | Submitted genomic | NC_000011.9:g.(?_8 5263724)_(85271049 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 85,263,724 | 85,271,049 | ||
| nssv14470375 | Submitted genomic | NC_000011.9:g.(?_8 5263724)_(85271049 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 85,263,724 | 85,271,049 | ||
| nssv14470952 | Submitted genomic | NC_000011.9:g.(?_8 5263724)_(85271049 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 85,263,724 | 85,271,049 | ||
| nssv14471103 | Submitted genomic | NC_000011.9:g.(?_8 5263724)_(85271049 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 85,263,724 | 85,271,049 | ||
| nssv14471205 | Submitted genomic | NC_000011.9:g.(?_8 5263724)_(85271049 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 85,263,724 | 85,271,049 |