A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512637



Internal ID6104619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37867927..37870843hg19UCSC Ensembl
Outerchr21:36789797..36792713hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv625252
Samples1
Known GenesCLDN14
MethodSNP_array
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformIllumina Genome Analyzer
Comments
ReferenceArlt et al 2011
Pubmed ID21212237
Accession Number(s)nsv512637
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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