nsv3140117
- 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:80,657
- 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: 413 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 413 SVs from 56 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3140117 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 285,453 | 366,109 |
| nsv3140117 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 394,619 | 475,275 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14184396 | copy number loss | Sequencing | Read depth |
| nssv14184397 | copy number gain | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14184396 | Remapped | Perfect | NC_000012.12:g.(?_ 285453)_(366109_?) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 285,453 | 366,109 |
| nssv14184397 | Remapped | Perfect | NC_000012.12:g.(?_ 285453)_(366109_?) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 285,453 | 366,109 |
| nssv14184396 | Submitted genomic | NC_000012.11:g.(?_ 394619)_(475275_?) del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 394,619 | 475,275 | ||
| nssv14184397 | Submitted genomic | NC_000012.11:g.(?_ 394619)_(475275_?) dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 394,619 | 475,275 |