A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833547



Internal ID16110730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76208499..76399227hg38UCSC Ensembl
Outerchr17:74204580..74395308hg19UCSC Ensembl
Outerchr17:71716175..71906903hg18UCSC Ensembl
Outerchr17:71716175..71906903hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38190729
hg19190729
hg18190729
hg17190729
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1453704, nssv1453702, nssv1453701, nssv1453703
Samples
Known GenesPRPSAP1, QRICH2, RNF157, SPHK1, UBALD2, UBE2O
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)nsv833547
Frequency
Sample Size95
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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