A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833673



Internal ID16110856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:63897072..64097021hg38UCSC Ensembl
Outerchr18:61564306..61764255hg19UCSC Ensembl
Outerchr18:59715286..59915235hg18UCSC Ensembl
Outerchr18:59715286..59915235hg17UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38199950
hg19199950
hg18199950
hg17199950
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1454058
Samples
Known GenesHMSD, LINC00305, SERPINB10, SERPINB2, SERPINB8
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)nsv833673
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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