nsv3169160
- 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:55,469
- 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: 430 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 430 SVs from 37 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3169160 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 28,607,191 (-29, +29) | 28,662,659 (-29, +29) |
nsv3169160 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 28,464,708 (-29, +29) | 28,520,176 (-29, +29) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14239259 | deletion | DB115 | Sequencing | Paired-end mapping | 36 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14239259 | Remapped | Perfect | NC_000008.11:g.(28 607162_28607220)_( 28662630_28662688) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 28,607,191 (-29, +29) | 28,662,659 (-29, +29) |
nssv14239259 | Submitted genomic | NC_000008.10:g.(28 464679_28464737)_( 28520147_28520205) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 28,464,708 (-29, +29) | 28,520,176 (-29, +29) |