nsv936517
- Organism: Homo sapiens
- Study:nstd84 (de Ligt et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:543,154
- Publication(s):de Ligt et al. 2013
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: 1208 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1208 SVs from 73 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv936517 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 50,093,713 | 50,093,713 | 50,636,866 | 50,636,866 |
nsv936517 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 50,061,426 | 50,061,426 | 50,604,579 | 50,604,579 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv1661088 | copy number gain | 2 | Sequencing | Read depth | 4 | 1,450 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1661088 | Remapped | Perfect | NC_000006.12:g.(50 093713_?)_(?_50636 866)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 50,093,713 | 50,636,866 |
nssv1661088 | Submitted genomic | NC_000006.11:g.(50 061426_?)_(?_50604 579)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 50,061,426 | 50,604,579 |