A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513052



Internal ID15505788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:73012515..73015972hg38UCSC Ensembl
Outerchr3:73061666..73065123hg19UCSC Ensembl
Outerchr3:73144356..73147813hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg383458
hg193458
hg183458
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626536
Samples1
Known GenesPPP4R2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513052
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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