A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597984



Internal ID16385393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:45406219..46228231hg38UCSC Ensembl
Innerchr5:45406321..46228333hg19UCSC Ensembl
Innerchr5:45442078..46264090hg18UCSC Ensembl
Cytoband5p11
Allele length
AssemblyAllele length
hg38822013
hg19822013
hg18822013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9749n54
Supporting Variantsnssv1029666
Samples
Known GenesHCN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597984
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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