nsv934328
- Organism: Homo sapiens
- Study:nstd81 (Low et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Yes
- Clinical Assertions: No
- Region Size:76,991
- Publication(s):Low et al. 2016
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: 238 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 238 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 62 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv934328 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 88,943,686 | 88,963,494 | 89,014,379 | 89,020,676 |
| nsv934328 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 88,676,854 | 88,696,662 | 88,747,547 | 88,753,844 |
| nsv934328 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 88,316,502 | 88,336,310 | 88,387,195 | 88,393,492 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number | Zygosity |
|---|---|---|---|---|---|---|
| nssv1660666 | copy number gain | SNP array | SNP genotyping analysis | NASOPHARYNGEAL CARCINOMA; NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 2; NPCA2 | 3 | Heterozygous |
| nssv1660667 | copy number gain | SNP array | SNP genotyping analysis | NASOPHARYNGEAL CARCINOMA; NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 2; NPCA2 | 3 | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1660666 | Remapped | Perfect | NC_000011.10:g.(88 943686_88963494)_( 89011257_89014380) dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 88,943,686 | 88,963,494 | 89,011,257 | 89,014,380 |
| nssv1660667 | Remapped | Perfect | NC_000011.10:g.(88 943686_88963494)_( 89014380_89020676) dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 88,943,686 | 88,963,494 | 89,014,380 | 89,020,676 |
| nssv1660666 | Remapped | Perfect | NC_000011.9:g.(886 76854_88696662)_(8 8744425_88747548)d up | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 88,676,854 | 88,696,662 | 88,744,425 | 88,747,548 |
| nssv1660667 | Remapped | Perfect | NC_000011.9:g.(886 76854_88696662)_(8 8747548_88753844)d up | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 88,676,854 | 88,696,662 | 88,747,548 | 88,753,844 |
| nssv1660666 | Submitted genomic | NC_000011.8:g.(883 16502_88336310)_(8 8384073_88387196)d up | NCBI36 (hg18) | NC_000011.8 | Chr11 | 88,316,502 | 88,336,310 | 88,384,073 | 88,387,196 | ||
| nssv1660667 | Submitted genomic | NC_000011.8:g.(883 16502_88336310)_(8 8387196_88393492)d up | NCBI36 (hg18) | NC_000011.8 | Chr11 | 88,316,502 | 88,336,310 | 88,387,196 | 88,393,492 |
Validation Information
| Variant Call ID | Experiment ID | Method | Analysis | Result |
|---|---|---|---|---|
| nssv1660666 | 2 | qPCR | Probe signal intensity | Pass |
| nssv1660667 | 2 | qPCR | Probe signal intensity | Pass |