A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599365



Internal ID16386774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111103810..111131376hg38UCSC Ensembl
Innerchr5:110439509..110467074hg19UCSC Ensembl
Innerchr5:110467408..110494973hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3827567
hg1927566
hg1827566
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153578
SamplesHGDP00638
Known GenesWDR36
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599365
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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