nsv6134126
- 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:221,427
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: 725 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 725 SVs from 72 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6134126 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 228,202,722 | 228,202,724 | 228,424,146 | 228,424,148 |
| nsv6134126 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 229,067,438 | 229,067,440 | 229,288,862 | 229,288,864 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17682638 | duplication | SAMN20524659 | Sequencing | Paired-end mapping | 203 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17682638 | Remapped | Perfect | NC_000002.12:g.(22 8202722_228202724) _(228424146_228424 148)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 228,202,722 | 228,202,724 | 228,424,146 | 228,424,148 |
| nssv17682638 | Submitted genomic | NC_000002.11:g.(22 9067438_229067440) _(229288862_229288 864)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 229,067,438 | 229,067,440 | 229,288,862 | 229,288,864 |