A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046996



Internal ID18789527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:77609516..77855405hg38UCSC Ensembl
Innerchr10:79369274..79615163hg19UCSC Ensembl
Innerchr10:79039280..79285169hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38245890
hg19245890
hg18245890
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv929n100
Supporting Variantsnssv3516770
Samples
Known GenesDLG5, KCNMA1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046996
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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