nsv3138253
- 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:31,581
- Description:qual score = 95
- 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: 151 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 151 SVs from 33 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3138253 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 33,691,612 | 33,723,192 |
| nsv3138253 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 33,659,389 | 33,690,969 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14149794 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14149794 | Remapped | Perfect | NC_000006.12:g.(?_ 33691612)_(3372319 2_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 33,691,612 | 33,723,192 |
| nssv14149794 | Submitted genomic | NC_000006.11:g.(?_ 33659389)_(3369096 9_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 33,659,389 | 33,690,969 |