A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1451228



Internal ID16101832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:169053145..169209830hg38UCSC Ensembl
Outerchr1:169022383..169179068hg19UCSC Ensembl
Outerchr1:167289007..167445692hg18UCSC Ensembl
Outerchr1:165754041..165910726hg17UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38156686
hg19156686
hg18156686
hg17156686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv831858
Supporting Variants
Samples
Known GenesATP1B1, LINC00970, NME7
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)nssv1451228
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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