A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829855



Internal ID16107038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8603152..8727881hg38UCSC Ensembl
Outerchr4:8604879..8729607hg19UCSC Ensembl
Outerchr4:8655779..8780507hg18UCSC Ensembl
Outerchr4:8722950..8847678hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38124730
hg19124729
hg18124729
hg17124729
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1443391, nssv1443403, nssv1443392, nssv1443396, nssv1443404, nssv1443402, nssv1443393, nssv1443399, nssv1443394, nssv1443401, nssv1443397, nssv1443409, nssv1443405, nssv1443390, nssv1443398, nssv1443400, nssv1443408
Samples
Known GenesCPZ
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)nsv829855
Frequency
Sample Size95
Observed Gain6
Observed Loss11
Observed Complex0
Frequencyn/a


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