A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513372



Internal ID15506108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121254382..121255430hg38UCSC Ensembl
Outerchr12:121692185..121693233hg19UCSC Ensembl
Outerchr12:120176568..120177616hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38903
hg19903
hg18903
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625765
Samples1
Known GenesCAMKK2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513372
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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