A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008684



Internal ID18751215
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 StatusM
Merged Variants
Supporting Variantsnssv3593386
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)nsv1008684
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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