A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831862



Internal ID16109045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46823825..46986417hg38UCSC Ensembl
Outerchr10:48752945..48915651hg19UCSC Ensembl
Outerchr10:48372951..48535657hg18UCSC Ensembl
Outerchr10:48372951..48535657hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38162593
hg19162707
hg18162707
hg17162707
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1448478, nssv1448480, nssv1448476, nssv1448477, nssv1448475, nssv1448479, nssv1448471, nssv1448472, nssv1448474
Samples
Known GenesFRMPD2P1, PTPN20A, PTPN20B
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)nsv831862
Frequency
Sample Size95
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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