nsv6133714
- 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:177,658
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: 333 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 337 SVs from 54 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6133714 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 215,375,653 | 215,375,685 | 215,553,278 | 215,553,310 |
nsv6133714 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 215,548,996 | 215,549,028 | 215,726,621 | 215,726,653 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17679037 | duplication | SAMN20524656 | Sequencing | Paired-end mapping | 419 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17679037 | Remapped | Perfect | NC_000001.11:g.(21 5375653_215375685) _(215553278_215553 310)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 215,375,653 | 215,375,685 | 215,553,278 | 215,553,310 |
nssv17679037 | Submitted genomic | NC_000001.10:g.(21 5548996_215549028) _(215726621_215726 653)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 215,548,996 | 215,549,028 | 215,726,621 | 215,726,653 |