A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3639011



Internal ID18590606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76489281..76618178hg38UCSC Ensembl
Innerchr5:75785106..75914003hg19UCSC Ensembl
Innerchr5:75820862..75949759hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38128898
hg19128898
hg18128898
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1022032
Supporting Variants
Samples
Known GenesF2RL2, IQGAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3639011
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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