A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834171



Internal ID9425022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29230413..29433855hg38UCSC Ensembl
Outerchr22:29626402..29829844hg19UCSC Ensembl
Outerchr22:27956402..28159844hg18UCSC Ensembl
Outerchr22:27950956..28154398hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38203443
hg19203443
hg18203443
hg17203443
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1455924
Samples
Known GenesAP1B1, EMID1, EWSR1, GAS2L1, MIR3653, RASL10A, RHBDD3, SNORD125
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)nsv834171
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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