A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512637



Internal ID8819941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:36495629..36498545hg38UCSC Ensembl
Outerchr21:37867927..37870843hg19UCSC Ensembl
Outerchr21:36789797..36792713hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg382917
hg192917
hg182917
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625252
Samples1
Known GenesCLDN14
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
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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