A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699936



Internal ID15089902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49853907..49897791hg38UCSC Ensembl
Innerchr19:50357164..50401048hg19UCSC Ensembl
Innerchr19:55048976..55092860hg18UCSC Ensembl
Innerchr19:55048976..55092860hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3843885
hg1943885
hg1843885
hg1743885
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524068
Supporting Variants
Samples
Known GenesAKT1S1, IL4I1, MIR4749, MIR4750, PNKP, PTOV1, TBC1D17
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699936
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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