A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3506



Internal ID5089109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37868163..37901996hg19UCSC Ensembl
Outerchr21:36790033..36823866hg18UCSC Ensembl
Outerchr21:36790033..36823866hg17UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg195454
hg185454
hg175454
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv5904
SamplesNA19129
Known GenesCLDN14
Method
AnalysisSample level sites were merged to generate a set of non-redundant variant regions. Two non-redundant inversion variants (chr 2 positions 89438708-89655419 and 89958869-91208466) were corrected from the original publication for coordinates and associated sample-level data.
PlatformCapillary
Comments
ReferenceKidd et al 2008
Pubmed ID18451855
Accession Number(s)nsv3506
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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