A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1029686



Internal ID15882872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:45668936..46287010hg38UCSC Ensembl
Innerchr5:45669038..46287112hg19UCSC Ensembl
Innerchr5:45704795..46322869hg18UCSC Ensembl
Cytoband5p11
Allele length
AssemblyAllele length
hg38618075
hg19618075
hg18618075
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv597996
Supporting Variants
Samples
Known GenesHCN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1029686
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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