A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3639124



Internal ID18590719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80559891..80584622hg38UCSC Ensembl
Innerchr5:79855710..79880441hg19UCSC Ensembl
Innerchr5:79891466..79916197hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3824732
hg1924732
hg1824732
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1029820
Supporting Variants
Samples
Known GenesANKRD34B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3639124
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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