A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598709



Internal ID16386118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78648334..78649112hg38UCSC Ensembl
Innerchr5:77944157..77944935hg19UCSC Ensembl
Innerchr5:77979913..77980691hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38779
hg19779
hg18779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9890n54
Supporting Variantsnssv1035177
Samples
Known GenesLHFPL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598709
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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