A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513499



Internal ID15852921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:59473323..59473756hg38UCSC Ensembl
Outerchr18:57140555..57140988hg19UCSC Ensembl
Outerchr18:55291535..55291968hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38887
hg19887
hg18887
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625909
Samples1
Known GenesCCBE1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513499
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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