A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832822



Internal ID16456691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:68407923..68593555hg38UCSC Ensembl
Outerchr14:68874640..69060272hg19UCSC Ensembl
Outerchr14:67944393..68130025hg18UCSC Ensembl
Outerchr14:67944393..68130025hg17UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38185633
hg19185633
hg18185633
hg17185633
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1451024, nssv1451021, nssv1451016, nssv1451027, nssv1451015, nssv1451031, nssv1451026, nssv1451032, nssv1451023, nssv1451022, nssv1451030, nssv1451038, nssv1451035, nssv1451025, nssv1451013, nssv1451036, nssv1451034, nssv1451019, nssv1451029, nssv1451020, nssv1451033, nssv1451037, nssv1451018, nssv1451014
Samples
Known GenesRAD51B
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)nsv832822
Frequency
Sample Size95
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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