nsv3140994
- Organism: Homo sapiens
- Study:nstd151 (Exome Aggregation Consortium CNVs)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:254,934
- Description:qual score = 93
- 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: 2230 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 2230 SVs from 84 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3140994 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 66,520,596 | 66,775,529 |
| nsv3140994 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 68,280,354 | 68,535,287 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14176961 | copy number loss | Sequencing | Read depth |
| nssv14176962 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14176961 | Remapped | Perfect | NC_000010.11:g.(?_ 66520596)_(6677552 9_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 66,520,596 | 66,775,529 |
| nssv14176962 | Remapped | Perfect | NC_000010.11:g.(?_ 66520596)_(6677552 9_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 66,520,596 | 66,775,529 |
| nssv14176961 | Submitted genomic | NC_000010.10:g.(?_ 68280354)_(6853528 7_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 68,280,354 | 68,535,287 | ||
| nssv14176962 | Submitted genomic | NC_000010.10:g.(?_ 68280354)_(6853528 7_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 68,280,354 | 68,535,287 |