nsv936416
- Organism: Homo sapiens
- Study:nstd84 (de Ligt et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:74,391
- 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: 495 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 786 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv936416 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 22,496,040 | 22,496,040 | 22,570,430 | 22,570,430 |
| nsv936416 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187604.1 | Chr15|NT_1 87604.1 | - | 140,295 | 214,643 | 214,643 |
| nsv936416 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 23,302,666 | 23,302,666 | 23,377,056 | 23,377,056 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1661957 | copy number loss | 2 | Oligo aCGH | Probe signal intensity | 1 | 1,450 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv1661957 | Remapped | Good | NT_187604.1:g.(?_1 40295)_(?_214643)d el | GRCh38.p12 | Second Pass | NT_187604.1 | Chr15|NT_1 87604.1 | - | 140,295 | 214,643 |
| nssv1661957 | Remapped | Perfect | NC_000015.10:g.(22 496040_?)_(?_22570 430)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,496,040 | - | 22,570,430 |
| nssv1661957 | Submitted genomic | NC_000015.9:g.(233 02666_?)_(?_233770 56)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 23,302,666 | - | 23,377,056 |