A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599746



Internal ID16387155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:135740638..135784828hg38UCSC Ensembl
Innerchr5:135076327..135120517hg19UCSC Ensembl
Innerchr5:135104226..135148416hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3844191
hg1944191
hg1844191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032723
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599746
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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