A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596443



Internal ID16037166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:186930134..188871837hg38UCSC Ensembl
Innerchr4:187851288..189792991hg19UCSC Ensembl
Innerchr4:188088282..190029985hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg381941704
hg191941704
hg181941704
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9439n54
Supporting Variantsnssv1020479
Samples
Known GenesLINC01060, LOC339975, TRIML1, TRIML2, ZFP42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596443
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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