nsv3142968
- 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:2,216,843
- 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: 4752 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 4749 SVs from 94 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3142968 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 74,965,761 | 77,182,603 |
| nsv3142968 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 74,676,806 | 76,893,648 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14180856 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14180856 | Remapped | Perfect | NC_000011.10:g.(?_ 74965761)_(7718260 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 74,965,761 | 77,182,603 |
| nssv14180856 | Submitted genomic | NC_000011.9:g.(?_7 4676806)_(76893648 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 74,676,806 | 76,893,648 |