A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831599



Internal ID16455468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:61826476..61864600hg38UCSC Ensembl
Outerchr9:67783659..67821807hg19UCSC Ensembl
Outerchr9:67373479..67411627hg18UCSC Ensembl
Outerchr9:66273824..66311972hg17UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3838125
hg1938149
hg1838149
hg1738149
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1447799, nssv1447796, nssv1447798, nssv1447797
Samples
Known GenesFAM27B, FAM27E3
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)nsv831599
Frequency
Sample Size95
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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