A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3593386



Internal ID18544981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:57537986..57766490hg38UCSC Ensembl
Innerchr3:57523713..57752217hg19UCSC Ensembl
Innerchr3:57498753..57727257hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38228505
hg19228505
hg18228505
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1008684
Supporting Variants
Samples
Known GenesARF4, DENND6A, DNAH12, PDE12, SLMAP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3593386
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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