nsv3140557
- Organism: Homo sapiens
- Study:nstd151 (Exome Aggregation Consortium CNVs)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:512,309
- Description:qual score = 94
- Publication(s):Exome Aggregation Consortium CNVs
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: 1842 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1847 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3140557 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 53,866,639 | 54,378,947 |
| nsv3140557 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 55,626,399 | 56,138,707 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14175718 | copy number loss | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14175718 | Remapped | Perfect | NC_000010.11:g.(?_ 53866639)_(5437894 7_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 53,866,639 | 54,378,947 |
| nssv14175718 | Submitted genomic | NC_000010.10:g.(?_ 55626399)_(5613870 7_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 55,626,399 | 56,138,707 |