A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691250



Internal ID15427902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40835684..40857860hg38UCSC Ensembl
Innerchr19:41341589..41363765hg19UCSC Ensembl
Innerchr19:46033429..46055605hg18UCSC Ensembl
Innerchr19:46033429..46055605hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3822177
hg1922177
hg1822177
hg1722177
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516972
Supporting Variants
Samples
Known GenesCYP2A6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv691250
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer