A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830552



Internal ID6156276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:170764563..171006439hg19UCSC Ensembl
Outerchr5:170697168..170939044hg18UCSC Ensembl
Outerchr5:170697168..170939044hg17UCSC Ensembl
Cytoband5q35.1
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 Variantsnssv1445150
Samples
Known GenesFGF18, MIR3912, NPM1
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv830552
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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