A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597844



Internal ID16385253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:37287734..37567749hg38UCSC Ensembl
Innerchr5:37287836..37567851hg19UCSC Ensembl
Innerchr5:37323593..37603608hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38280016
hg19280016
hg18280016
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1029090
Samples
Known GenesNUP155, WDR70
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597844
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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