A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598952



Internal ID16039675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:94488246..94621281hg38UCSC Ensembl
Innerchr5:93823951..93956986hg19UCSC Ensembl
Innerchr5:93849707..93982742hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38133036
hg19133036
hg18133036
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1038097
Samples
Known GenesANKRD32, KIAA0825
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598952
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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