A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594032



Internal ID16034755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39893368..40131994hg38UCSC Ensembl
Innerchr4:39894988..40133614hg19UCSC Ensembl
Innerchr4:39571383..39810009hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38238627
hg19238627
hg18238627
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv995979
Samples
Known GenesLOC344967, N4BP2, PDS5A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594032
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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