A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3639147



Internal ID18590742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:83404850..84499122hg38UCSC Ensembl
Innerchr5:82700669..83794940hg19UCSC Ensembl
Innerchr5:82736425..83830696hg18UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg381094273
hg191094272
hg181094272
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1015852
Supporting Variants
Samples
Known GenesEDIL3, HAPLN1, VCAN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3639147
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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