nsv3130168
- 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:86,147
- Description:qual score = 97
- 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: 406 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 406 SVs from 59 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3130168 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 22,387,702 | 22,473,848 |
| nsv3130168 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 22,389,325 | 22,475,471 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14137137 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14137137 | Remapped | Perfect | NC_000004.12:g.(?_ 22387702)_(2247384 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 22,387,702 | 22,473,848 |
| nssv14137137 | Submitted genomic | NC_000004.11:g.(?_ 22389325)_(2247547 1_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 22,389,325 | 22,475,471 |