A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469804



Internal ID15187833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:151547915..151714368hg38UCSC Ensembl
Innerchr2:152404429..152570882hg19UCSC Ensembl
Innerchr2:152112675..152279128hg18UCSC Ensembl
Innerchr2:152606974..152773427hg16UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38166454
hg19166454
hg18166454
hg16166454
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675031
Samples
Known GenesNEB
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)nsv469804
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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