A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599818



Internal ID16040541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138559529..138641163hg38UCSC Ensembl
Innerchr5:137895218..137976852hg19UCSC Ensembl
Innerchr5:137923117..138004751hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3881635
hg1981635
hg1881635
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1042094
Samples
Known GenesHSPA9, SNORD63
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599818
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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