nsv3165550
- 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:24,319
- 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: 180 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 178 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3165550 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 40,053,295 | 40,077,613 |
| nsv3165550 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 38,209,548 | 38,233,866 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14213004 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14213004 | Remapped | Perfect | NC_000017.11:g.(?_ 40053295)_(4007761 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 40,053,295 | 40,077,613 |
| nssv14213004 | Submitted genomic | NC_000017.10:g.(?_ 38209548)_(3823386 6_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 38,209,548 | 38,233,866 |