A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831237



Internal ID16455106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:143941149..144043716hg38UCSC Ensembl
Outerchr1:120767265..120869801hg19UCSC Ensembl
Outerchr1:120568788..120671324hg18UCSC Ensembl
Outerchr1:120479307..120581843hg17UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38102568
hg19102537
hg18102537
hg17102537
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1449373, nssv1449239, nssv1449362, nssv1449384, nssv1449283, nssv1449440, nssv1449462, nssv1449351, nssv1449395, nssv1449296, nssv1449250, nssv1449340, nssv1449318, nssv1449407, nssv1449418, nssv1449451, nssv1449429, nssv1449261, nssv1449272, nssv1449329, nssv1449307
Samples
Known GenesFAM72B
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)nsv831237
Frequency
Sample Size95
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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