A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648241



Internal ID18599836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:163390438..163476503hg38UCSC Ensembl
Innerchr5:162817444..162903509hg19UCSC Ensembl
Innerchr5:162750022..162836087hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3886066
hg1986066
hg1886066
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1018494
Supporting Variants
Samples
Known GenesCCNG1, HMMR, NUDCD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3648241
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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