A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3565442



Internal ID18517037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:50123130..50256299hg38UCSC Ensembl
Innerchr18:47649500..47782669hg19UCSC Ensembl
Innerchr18:45903498..46036667hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38133170
hg19133170
hg18133170
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1057599
Supporting Variants
Samples
Known GenesCCDC11, MIR4320, MYO5B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3565442
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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