nsv3160254
- 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:201,183
- Description:qual score = 99
- 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: 874 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 874 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3160254 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 7,699,736 | 7,900,918 |
| nsv3160254 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 7,764,622 | 7,965,803 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14217193 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14217193 | Remapped | Perfect | NC_000019.10:g.(?_ 7699736)_(7900918_ ?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 7,699,736 | 7,900,918 |
| nssv14217193 | Submitted genomic | NC_000019.9:g.(?_7 764622)_(7965803_? )dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 7,764,622 | 7,965,803 |