A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512832



Internal ID15505568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:101163901..101164277hg38UCSC Ensembl
Outerchr4:102085058..102085434hg19UCSC Ensembl
Outerchr4:102304081..102304457hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38904
hg19904
hg18904
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625469
Samples1
Known GenesPPP3CA
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512832
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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