A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598704



Internal ID16386113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78648180..78649165hg38UCSC Ensembl
Innerchr5:77944003..77944988hg19UCSC Ensembl
Innerchr5:77979759..77980744hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38986
hg19986
hg18986
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9890n54
Supporting Variantsnssv1035169, nssv1035170, nssv1035168, nssv1035171
Samples
Known GenesLHFPL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598704
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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