A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829932



Internal ID9420783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:51917992..52073520hg38UCSC Ensembl
Outerchr4:52784158..52939686hg19UCSC Ensembl
Outerchr4:52478915..52634443hg18UCSC Ensembl
Outerchr4:52625086..52780614hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38155529
hg19155529
hg18155529
hg17155529
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1443632, nssv1443634, nssv1443633
Samples
Known GenesLRRC66, SGCB, SPATA18
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)nsv829932
Frequency
Sample Size95
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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