nsv3142192
- 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:987
- Description:
See descriptions for individual calls in download files - 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: 265 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 265 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3142192 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 821,625 | 822,611 |
| nsv3142192 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 821,625 | 822,611 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14180986 | copy number loss | Sequencing | Read depth |
| nssv14180987 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14180986 | Remapped | Perfect | NC_000011.10:g.(?_ 821625)_(822611_?) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 821,625 | 822,611 |
| nssv14180987 | Remapped | Perfect | NC_000011.10:g.(?_ 821625)_(822611_?) dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 821,625 | 822,611 |
| nssv14180986 | Submitted genomic | NC_000011.9:g.(?_8 21625)_(822611_?)d el | GRCh37 (hg19) | NC_000011.9 | Chr11 | 821,625 | 822,611 | ||
| nssv14180987 | Submitted genomic | NC_000011.9:g.(?_8 21625)_(822611_?)d up | GRCh37 (hg19) | NC_000011.9 | Chr11 | 821,625 | 822,611 |