A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520576



Internal ID15101183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:22610824..22624637hg38UCSC Ensembl
Innerchr14:23079730..23093540hg19UCSC Ensembl
Innerchr14:22149570..22163380hg18UCSC Ensembl
Innerchr14:22149570..22163380hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3813814
hg1913811
hg1813811
hg1713811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697499
Samples
Known GenesABHD4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520576
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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