A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1448292



Internal ID16098896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:27728677..27911722hg38UCSC Ensembl
Outerchr10:28017606..28200651hg19UCSC Ensembl
Outerchr10:28057612..28240657hg18UCSC Ensembl
Outerchr10:28057612..28240657hg17UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38183046
hg19183046
hg18183046
hg17183046
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv831813
Supporting Variants
Samples
Known GenesARMC4, MKX
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)nssv1448292
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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