A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469777



Internal ID8501474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:17224071..17369384hg38UCSC Ensembl
Innerchr17:17127385..17272698hg19UCSC Ensembl
Innerchr17:17068110..17213423hg18UCSC Ensembl
Innerchr17:17327951..17473264hg16UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38145314
hg19145314
hg18145314
hg16145314
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675948
Samples
Known GenesCOPS3, FLCN, NT5M
MethodBAC aCGH
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.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nsv469777
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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