A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1448320



Internal ID16098924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:30459326..30628314hg38UCSC Ensembl
Outerchr10:30748255..30917243hg19UCSC Ensembl
Outerchr10:30788261..30957249hg18UCSC Ensembl
Outerchr10:30788261..30957249hg17UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg38168989
hg19168989
hg18168989
hg17168989
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv831822
Supporting Variants
Samples
Known GenesLYZL2, MAP3K8
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)nssv1448320
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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