nsv3134371
- 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:223,034
- Description:qual score = 98
- 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: 857 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 857 SVs from 90 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3134371 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 46,670,981 | 46,894,014 |
| nsv3134371 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 46,712,471 | 46,935,504 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14139118 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14139118 | Remapped | Perfect | NC_000003.12:g.(?_ 46670981)_(4689401 4_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 46,670,981 | 46,894,014 |
| nssv14139118 | Submitted genomic | NC_000003.11:g.(?_ 46712471)_(4693550 4_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 46,712,471 | 46,935,504 |