A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1442030



Internal ID16092634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:88083076..88251327hg38UCSC Ensembl
Outerchr2:88382595..88550846hg19UCSC Ensembl
Outerchr2:88163710..88331961hg18UCSC Ensembl
Outerchr2:88221857..88390108hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38168252
hg19168252
hg18168252
hg17168252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv834289
Supporting Variants
Samples
Known GenesFABP1, SMYD1, THNSL2
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)nssv1442030
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer