A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469852



Internal ID15534567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20341714..20529960hg38UCSC Ensembl
Innerchr17:20245027..20433273hg19UCSC Ensembl
Innerchr17:20185619..20373865hg18UCSC Ensembl
Innerchr17:20407056..20595302hg16UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38188247
hg19188247
hg18188247
hg16188247
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672320
Samples
Known GenesCCDC144CP, KRT16P3, LGALS9B
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)nsv469852
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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