nsv6131990
- 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:104,753
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: 405 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 405 SVs from 49 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6131990 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 126,467,138 | 126,467,140 | 126,571,888 | 126,571,890 |
nsv6131990 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 126,337,033 | 126,337,035 | 126,441,783 | 126,441,785 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17678659 | duplication | SAMN20524657 | Sequencing | Paired-end mapping | 656 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17678659 | Remapped | Perfect | NC_000011.10:g.(12 6467138_126467140) _(126571888_126571 890)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,467,138 | 126,467,140 | 126,571,888 | 126,571,890 |
nssv17678659 | Submitted genomic | NC_000011.9:g.(126 337033_126337035)_ (126441783_1264417 85)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,337,033 | 126,337,035 | 126,441,783 | 126,441,785 |