A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830167



Internal ID16107350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:184165693..184387797hg38UCSC Ensembl
Outerchr4:185086846..185308951hg19UCSC Ensembl
Outerchr4:185323840..185545945hg18UCSC Ensembl
Outerchr4:185461995..185684100hg17UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38222105
hg19222106
hg18222106
hg17222106
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1444131, nssv1444124, nssv1444121, nssv1444120, nssv1444122, nssv1444128, nssv1444125, nssv1444130, nssv1444119, nssv1444123, nssv1444126, nssv1444127, nssv1444132
Samples
Known GenesENPP6, IRF2, LOC728175
MethodBAC aCGH
AnalysisExperimental SDs (SDautosome) were calculated for each experiment on the basis of the log2 ratios of the 24,392 reliable clones minus the clones removed because of low signal-to-noise ratio (SNR) or high SD of replicate clone measures (SDclone). Thresholds for determining CNV clones were set at a multiple of the SDautosome value. For each experiment, clones were annotated as uninformative if they were filtered via SNR or SDclone, as a CNV loss if the log2 ratio was less than the negative threshold, as unchanged if the log2 ratio was between the negative and positive thresholds, and as a CNV gain if the log2 ratio was above the positive threshold.
PlatformGPL2616
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv830167
Frequency
Sample Size95
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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