nsv1398680
- Organism: Homo sapiens
- Study:nstd129 (Guo et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:126,885
- Publication(s):Guo 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: 536 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 537 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1398680 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 41,673,340 | 41,800,224 |
| nsv1398680 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 41,714,831 | 41,841,716 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity |
|---|---|---|---|---|---|
| nssv8641613 | copy number loss | 1 | SNP array | SNP genotyping analysis | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv8641613 | Remapped | Good | NC_000003.12:g.(?_ 41673340)_(4180022 4_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,673,340 | 41,800,224 |
| nssv8641613 | Submitted genomic | NC_000003.11:g.(?_ 41714831)_(4184171 6_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 41,714,831 | 41,841,716 |