A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598703



Internal ID16386112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78648180..78649060hg38UCSC Ensembl
Innerchr5:77944003..77944883hg19UCSC Ensembl
Innerchr5:77979759..77980639hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38881
hg19881
hg18881
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9889n54
Supporting Variantsnssv1035167
Samples
Known GenesLHFPL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598703
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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