A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596374



Internal ID16383783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:185515495..185524265hg38UCSC Ensembl
Innerchr4:186436649..186445419hg19UCSC Ensembl
Innerchr4:186673643..186682413hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg388771
hg198771
hg188771
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1017983
Samples
Known GenesPDLIM3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596374
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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