A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831531



Internal ID16455400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:26334442..26475738hg38UCSC Ensembl
Outerchr9:26334440..26475736hg19UCSC Ensembl
Outerchr9:26324440..26465736hg18UCSC Ensembl
Outerchr9:26324440..26465736hg17UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg38141297
hg19141297
hg18141297
hg17141297
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1447608, nssv1447589, nssv1447591, nssv1447594, nssv1447596, nssv1447593, nssv1447607, nssv1447602, nssv1447588, nssv1447601, nssv1447603, nssv1447592, nssv1447605, nssv1447599, nssv1447597, nssv1447610, nssv1447600, nssv1447590, nssv1447598, nssv1447609, nssv1447604
Samples
Known Genes
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)nsv831531
Frequency
Sample Size95
Observed Gain17
Observed Loss4
Observed Complex0
Frequencyn/a


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