A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599935



Internal ID16387344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:146204060..146262444hg38UCSC Ensembl
Innerchr5:145583623..145642007hg19UCSC Ensembl
Innerchr5:145563816..145622200hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3858385
hg1958385
hg1858385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1042576
Samples
Known GenesRBM27
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599935
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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