A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3760185



Internal ID19058466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12468589..12709141hg38UCSC Ensembl
Innerchr8:12326098..12566650hg19UCSC Ensembl
Innerchr8:12370469..12611021hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38240553
hg19240553
hg18240553
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1030503
Supporting Variants
Samples
Known GenesLOC100506990, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3760185
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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