A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834148



Internal ID16458017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:57752526..57892078hg38UCSC Ensembl
Outerchr2:57979661..58119213hg19UCSC Ensembl
Outerchr2:57833165..57972717hg18UCSC Ensembl
Outerchr2:57891312..58030864hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38139553
hg19139553
hg18139553
hg17139553
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1441927, nssv1441925, nssv1441926
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)nsv834148
Frequency
Sample Size95
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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