A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829916



Internal ID16453785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:41557312..41739065hg38UCSC Ensembl
Outerchr4:41559329..41741082hg19UCSC Ensembl
Outerchr4:41254086..41435839hg18UCSC Ensembl
Outerchr4:41400257..41582010hg17UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38181754
hg19181754
hg18181754
hg17181754
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1443594, nssv1443580, nssv1443583, nssv1443591, nssv1443597, nssv1443587, nssv1443581, nssv1443599, nssv1443588, nssv1443589, nssv1443596, nssv1443592, nssv1443585, nssv1443586, nssv1443598, nssv1443576, nssv1443593, nssv1443578, nssv1443577, nssv1443582, nssv1443590, nssv1443579
Samples
Known GenesLIMCH1
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)nsv829916
Frequency
Sample Size95
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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