A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469600



Internal ID15187629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3090218..3238112hg38UCSC Ensembl
Innerchr17:2993512..3141406hg19UCSC Ensembl
Innerchr17:2940262..3088156hg18UCSC Ensembl
Innerchr17:3200103..3347997hg16UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38147895
hg19147895
hg18147895
hg16147895
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4n29
Supporting Variantsnssv1673908
Samples
Known GenesOR1A1, OR1A2, OR1D2, OR1G1
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)nsv469600
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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