A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595388



Internal ID16382797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:127932758..128163676hg38UCSC Ensembl
Innerchr4:128853913..129084831hg19UCSC Ensembl
Innerchr4:129073363..129304281hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38230919
hg19230919
hg18230919
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1006241
Samples
Known GenesC4orf29, LARP1B, MFSD8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595388
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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