nsv3156139
- 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:22,627
- 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: 131 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 131 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3156139 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 28,711,567 | 28,734,193 |
| nsv3156139 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 27,038,585 | 27,061,211 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14210464 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14210464 | Remapped | Perfect | NC_000017.11:g.(?_ 28711567)_(2873419 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 28,711,567 | 28,734,193 |
| nssv14210464 | Submitted genomic | NC_000017.10:g.(?_ 27038585)_(2706121 1_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 27,038,585 | 27,061,211 |