nsv6133690
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,580,005
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: 14156 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 14157 SVs from 113 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6133690 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 13,149,186 | 16,729,190 |
| nsv6133690 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 13,260,000 | 16,840,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17678444 | copy number gain | SAMN20524663 | Sequencing | Paired-end mapping | 244 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17678444 | Remapped | Perfect | NC_000019.10:g.131 49186_16729190dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 13,149,186 | 16,729,190 |
| nssv17678444 | Submitted genomic | NC_000019.9:g.1326 0000_16840001dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 13,260,000 | 16,840,001 |