A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469781



Internal ID15534496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:192632113..192782764hg38UCSC Ensembl
Innerchr3:192349902..192500553hg19UCSC Ensembl
Innerchr3:193832596..193983247hg18UCSC Ensembl
Innerchr3:193670815..193821466hg16UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38150652
hg19150652
hg18150652
hg16150652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675709, nssv1673199, nssv1672318, nssv1674809, nssv1675495, nssv1672454, nssv1674064, nssv1676435, nssv1675705, nssv1673897
Samples
Known GenesFGF12
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)nsv469781
Frequency
Sample Size265
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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