A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598701



Internal ID16386110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78644967..78649165hg38UCSC Ensembl
Innerchr5:77940790..77944988hg19UCSC Ensembl
Innerchr5:77976546..77980744hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg384199
hg194199
hg184199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1035164
Samples
Known GenesLHFPL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598701
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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