A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594786



Internal ID16035509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86155207..86688167hg38UCSC Ensembl
Innerchr4:87076360..87609320hg19UCSC Ensembl
Innerchr4:87295384..87828344hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg38532961
hg19532961
hg18532961
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153468
SamplesHGDP01192
Known GenesMAPK10, PTPN13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594786
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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