A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469572



Internal ID15534287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:621764..804504hg38UCSC Ensembl
Innerchr5:621879..804619hg19UCSC Ensembl
Innerchr5:674879..857619hg18UCSC Ensembl
Innerchr5:674617..857357hg16UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38182741
hg19182741
hg18182741
hg16182741
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7n29
Supporting Variantsnssv1672468, nssv1674531, nssv1672965, nssv1673165, nssv1673026, nssv1673285, nssv1673050, nssv1672931, nssv1676623, nssv1676078, nssv1673978, nssv1673833, nssv1676569, nssv1675568, nssv1672189, nssv1673654, nssv1672898, nssv1675838, nssv1674855, nssv1673314, nssv1675332, nssv1676701, nssv1672873, nssv1675331, nssv1673504, nssv1676658, nssv1672835, nssv1672219, nssv1674093, nssv1672297, nssv1674458, nssv1674947, nssv1672580, nssv1673416, nssv1675239, nssv1675423, nssv1673150, nssv1675746, nssv1676211, nssv1674305
Samples
Known GenesCEP72, TPPP, ZDHHC11
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)nsv469572
Frequency
Sample Size265
Observed Gain40
Observed Loss0
Observed Complex0
Frequencyn/a


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