A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469596



Internal ID15534311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:743711..929883hg38UCSC Ensembl
Innerchr2:743711..925569hg19UCSC Ensembl
Innerchr2:733711..915569hg18UCSC Ensembl
Innerchr2:733711..915569hg16UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38186173
hg19181859
hg18181859
hg16181859
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1674160
Samples
Known GenesLINC01115
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)nsv469596
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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