A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046394



Internal ID19135613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:109295986..109335411hg38UCSC Ensembl
Innerchr9:112058266..112097691hg19UCSC Ensembl
Innerchr9:111098087..111137512hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3839426
hg1939426
hg1839426
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7699n100
Supporting Variantsnssv3697653, nssv3697652
Samples
Known GenesEPB41L4B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046394
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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