A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833713



Internal ID16110896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3564423..3627361hg38UCSC Ensembl
Outerchr19:3564421..3627359hg19UCSC Ensembl
Outerchr19:3515421..3578359hg18UCSC Ensembl
Outerchr19:3515421..3578359hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3862939
hg1962939
hg1862939
hg1762939
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1454235, nssv1454241, nssv1454251, nssv1454233, nssv1454259, nssv1454247, nssv1454234, nssv1454248, nssv1454254, nssv1454246, nssv1454244, nssv1454238, nssv1454243, nssv1454257, nssv1454260, nssv1454236, nssv1454258, nssv1454245, nssv1454232, nssv1454253, nssv1454237, nssv1454249, nssv1454256, nssv1454239, nssv1454250, nssv1454242, nssv1454240, nssv1454255, nssv1454252
Samples
Known GenesCACTIN, CACTIN-AS1, GIPC3, HMG20B, TBXA2R
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)nsv833713
Frequency
Sample Size95
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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