A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831736



Internal ID16108919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161443333..161654634hg38UCSC Ensembl
Outerchr1:161413602..161624424hg19UCSC Ensembl
Outerchr1:159680001..159891048hg18UCSC Ensembl
Outerchr1:158226196..158356091hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38211302
hg19210823
hg18211048
hg17129896
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4n68
Supporting Variantsnssv1450928, nssv1450939
Samples
Known GenesFCGR2A, FCGR2C, FCGR3A, FCGR3B, HSPA6, HSPA7
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)nsv831736
Frequency
Sample Size95
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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