A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469760



Internal ID15187789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36519312..36683773hg38UCSC Ensembl
Innerchr17:34875145..35040221hg19UCSC Ensembl
Innerchr17:31949258..32114334hg18UCSC Ensembl
Innerchr17:35070695..35235771hg16UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38164462
hg19165077
hg18165077
hg16165077
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675821, nssv1674516
Samples
Known GenesDHRS11, GGNBP2, MRM1, MYO19, PIGW
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)nsv469760
Frequency
Sample Size265
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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