A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513123



Internal ID15852545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:21158691..21165505hg38UCSC Ensembl
Outerchr4:21160314..21167128hg19UCSC Ensembl
Outerchr4:20769412..20776226hg18UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg386815
hg196815
hg186815
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626615
Samples1
Known GenesKCNIP4
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513123
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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