nsv6134960
- 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:67,450
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: 451 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 451 SVs from 56 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6134960 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 55,658,032 | 55,658,033 | 55,725,478 | 55,725,481 |
nsv6134960 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 54,953,860 | 54,953,861 | 55,021,306 | 55,021,309 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17678167 | duplication | SAMN20524660 | Sequencing | Paired-end mapping | 208 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17678167 | Remapped | Perfect | NC_000005.10:g.(55 658032_55658033)_( 55725478_55725481) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 55,658,032 | 55,658,033 | 55,725,478 | 55,725,481 |
nssv17678167 | Submitted genomic | NC_000005.9:g.(549 53860_54953861)_(5 5021306_55021309)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 54,953,860 | 54,953,861 | 55,021,306 | 55,021,309 |