A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833803



Internal ID16110986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:36361922..36518636hg38UCSC Ensembl
Outerchr2:36589065..36745779hg19UCSC Ensembl
Outerchr2:36442569..36599283hg18UCSC Ensembl
Outerchr2:36500716..36657430hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38156715
hg19156715
hg18156715
hg17156715
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1441867, nssv1441871, nssv1441876, nssv1441868, nssv1441878, nssv1441873, nssv1441877, nssv1441870, nssv1441879, nssv1441869, nssv1441872, nssv1441875, nssv1441866, nssv1441865
Samples
Known GenesCRIM1
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)nsv833803
Frequency
Sample Size95
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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