A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598707



Internal ID16386116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78648231..78649112hg38UCSC Ensembl
Innerchr5:77944054..77944935hg19UCSC Ensembl
Innerchr5:77979810..77980691hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38882
hg19882
hg18882
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9889n54
Supporting Variantsnssv1035174
Samples
Known GenesLHFPL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598707
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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