A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598702



Internal ID16386111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78648180..78649006hg38UCSC Ensembl
Innerchr5:77944003..77944829hg19UCSC Ensembl
Innerchr5:77979759..77980585hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38827
hg19827
hg18827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9890n54
Supporting Variantsnssv1035165, nssv1035166
Samples
Known GenesLHFPL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598702
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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