nsv3168652
- Organism: Homo sapiens
- Study:nstd158 (Cleal et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:513,482
- Publication(s):Cleal et al. 2019
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: 1888 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1888 SVs from 85 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3168652 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 82,214,300 (-3, +3) | 82,727,781 (-3, +3) |
nsv3168652 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 82,788,435 (-3, +3) | 83,301,916 (-3, +3) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14239327 | deletion | DB79 | Sequencing | Paired-end mapping | 61 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14239327 | Remapped | Perfect | NC_000013.11:g.(82 214297_82214303)_( 82727778_82727784) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 82,214,300 (-3, +3) | 82,727,781 (-3, +3) |
nssv14239327 | Submitted genomic | NC_000013.10:g.(82 788432_82788438)_( 83301913_83301919) del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 82,788,435 (-3, +3) | 83,301,916 (-3, +3) |