nsv943554
- Organism: Homo sapiens
- Study:nstd84 (de Ligt et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH, SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:70,493
- 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: 659 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 659 SVs from 63 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv943554 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 2,473,713 | 2,473,713 | 2,544,205 | 2,544,205 |
| nsv943554 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 2,515,397 | 2,515,397 | 2,585,889 | 2,585,889 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1664202 | Remapped | Perfect | NC_000003.12:g.(24 73713_?)_(?_253992 0)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 2,473,713 | 2,539,920 |
| nssv1665090 | Remapped | Perfect | NC_000003.12:g.(24 75822_?)_(?_254420 5)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 2,475,822 | 2,544,205 |
| nssv1664202 | Submitted genomic | NC_000003.11:g.(25 15397_?)_(?_258160 4)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 2,515,397 | 2,581,604 | ||
| nssv1665090 | Submitted genomic | NC_000003.11:g.(25 17506_?)_(?_258588 9)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 2,517,506 | 2,585,889 |