A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599733



Internal ID16040456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134494299..134541987hg38UCSC Ensembl
Innerchr5:133829990..133877677hg19UCSC Ensembl
Innerchr5:133857889..133905576hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3847689
hg1947688
hg1847688
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032705
Samples
Known GenesJADE2, LOC101927934
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599733
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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