A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830261



Internal ID6155985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:35863084..36018048hg19UCSC Ensembl
Outerchr5:35898841..36053805hg18UCSC Ensembl
Outerchr5:35898841..36053805hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1444390
Samples
Known GenesCAPSL, IL7R, UGT3A1
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv830261
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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