A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469777



Internal ID6055187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:17127385..17272698hg19UCSC Ensembl
Innerchr17:17068110..17213423hg18UCSC Ensembl
Innerchr17:17068110..17213423hg17UCSC Ensembl
Innerchr17:17327951..17473264hg16UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
hg16n/a
Variant TypeCNV Complex
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv649798
Samples
Known GenesCOPS3, FLCN, NT5M
Method
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformEichler Segmental Duplication BAC array
Comments
ReferenceLocke et al 2006
Pubmed ID16826518
Accession Number(s)nsv469777
Frequency
Sample Size265
Observed Gain0
Observed Loss0
Observed Complexn/a
Frequencyn/a


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