A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3506



Internal ID8515104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:36495865..36529698hg38UCSC Ensembl
Outerchr21:37868163..37901996hg19UCSC Ensembl
Outerchr21:36790033..36823866hg18UCSC Ensembl
Outerchr21:36790033..36823866hg17UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg385454
hg195454
hg185454
hg175454
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5904
SamplesNA19129
Known GenesCLDN14
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
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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