A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833398



Internal ID16457267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:20392913..20498717hg38UCSC Ensembl
Outerchr17:20296226..20402030hg19UCSC Ensembl
Outerchr17:20236818..20342622hg18UCSC Ensembl
Outerchr17:20236818..20342622hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38105805
hg19105805
hg18105805
hg17105805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1453177, nssv1453179, nssv1453189, nssv1453192, nssv1453178, nssv1453195, nssv1453194, nssv1453182, nssv1453186, nssv1453180, nssv1453176, nssv1453188, nssv1453183, nssv1453185, nssv1453190, nssv1453175, nssv1453187, nssv1453193, nssv1453181, nssv1453191, nssv1453173, nssv1453184, nssv1453174
Samples
Known GenesCCDC144CP, LGALS9B
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)nsv833398
Frequency
Sample Size95
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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