A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1029683



Internal ID15882869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:45537197..46265200hg38UCSC Ensembl
Innerchr5:45537299..46265302hg19UCSC Ensembl
Innerchr5:45573056..46301059hg18UCSC Ensembl
Cytoband5p11
Allele length
AssemblyAllele length
hg38728004
hg19728004
hg18728004
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv597993
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)nssv1029683
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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