A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831503



Internal ID16108686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149669042..149849274hg38UCSC Ensembl
Outerchr1:149640643..149820841hg19UCSC Ensembl
Outerchr1:147907267..148087465hg18UCSC Ensembl
Outerchr1:146453716..146633914hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38180233
hg19180199
hg18180199
hg17180199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1450328, nssv1450407, nssv1450283, nssv1450440, nssv1450261, nssv1450451, nssv1450272, nssv1450383, nssv1450418, nssv1450394, nssv1450339, nssv1450462, nssv1450495, nssv1450361, nssv1450317, nssv1450429, nssv1450473, nssv1450295, nssv1450484, nssv1450306, nssv1450350, nssv1450372
Samples
Known GenesFCGR1A, HIST2H2AA3, HIST2H2AA4, HIST2H2BF, HIST2H3A, HIST2H3C, HIST2H3D, HIST2H4A, HIST2H4B, LINC00869
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)nsv831503
Frequency
Sample Size95
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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