A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1449572



Internal ID16100176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:3872018..4071215hg38UCSC Ensembl
Outerchr12:3981184..4180381hg19UCSC Ensembl
Outerchr12:3851445..4050642hg18UCSC Ensembl
Outerchr12:3851445..4050642hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38199198
hg19199198
hg18199198
hg17199198
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv832316
Supporting Variants
Samples
Known GenesPARP11
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)nssv1449572
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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