A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833463



Internal ID16110646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46401491..46577031hg38UCSC Ensembl
Outerchr17:44478857..44654397hg19UCSC Ensembl
Outerchr17:41834276..42009713hg18UCSC Ensembl
Outerchr17:41834276..42009713hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38175541
hg19175541
hg18175438
hg17175438
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1453496, nssv1453482, nssv1453460, nssv1453476, nssv1453464, nssv1453505, nssv1453478, nssv1453470, nssv1453466, nssv1453469, nssv1453503, nssv1453459, nssv1453485, nssv1453472, nssv1453506, nssv1453465, nssv1453477, nssv1453491, nssv1453463, nssv1453475, nssv1453490, nssv1453473, nssv1453488, nssv1453480, nssv1453468, nssv1453479, nssv1453481, nssv1453499, nssv1453493, nssv1453461, nssv1453489, nssv1453502, nssv1453471, nssv1453497, nssv1453474, nssv1453467, nssv1453487, nssv1453500, nssv1453498, nssv1453483, nssv1453504, nssv1453462, nssv1453501, nssv1453494, nssv1453484, nssv1453495, nssv1453492, nssv1453486
Samples
Known GenesARL17A, ARL17B, LRRC37A2, NSFP1
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)nsv833463
Frequency
Sample Size95
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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