A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831264



Internal ID16108447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:22093700..22328040hg38UCSC Ensembl
Outerchr8:21951211..22185553hg19UCSC Ensembl
Outerchr8:22007157..22241498hg18UCSC Ensembl
Outerchr8:22007157..22241498hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38234341
hg19234343
hg18234342
hg17234342
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1446981, nssv1446983, nssv1446986, nssv1446985, nssv1446977, nssv1446982, nssv1446979, nssv1446978, nssv1446980
Samples
Known GenesBMP1, FAM160B2, HR, LGI3, MIR320A, NUDT18, PHYHIP, PIWIL2, POLR3D, REEP4, SFTPC
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)nsv831264
Frequency
Sample Size95
Observed Gain1
Observed Loss8
Observed Complex0
Frequencyn/a


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