A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1441911



Internal ID16092515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:53673537..53844874hg38UCSC Ensembl
Outerchr2:53900674..54072011hg19UCSC Ensembl
Outerchr2:53754178..53925515hg18UCSC Ensembl
Outerchr2:53812325..53983662hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38171338
hg19171338
hg18171338
hg17171338
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv834058
Supporting Variants
Samples
Known GenesASB3, CHAC2, ERLEC1, GPR75-ASB3
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)nssv1441911
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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