A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833428



Internal ID16457297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:36537125..36587003hg38UCSC Ensembl
Outerchr17:34892974..34943433hg19UCSC Ensembl
Outerchr17:31967087..32017546hg18UCSC Ensembl
Outerchr17:31967087..32017546hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3849879
hg1950460
hg1850460
hg1750460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1453276, nssv1453270, nssv1453280, nssv1453267, nssv1453284, nssv1453278, nssv1453283, nssv1453265, nssv1453282, nssv1453291, nssv1453288, nssv1453274, nssv1453279, nssv1453290, nssv1453275, nssv1453277, nssv1453266, nssv1453285, nssv1453289, nssv1453271, nssv1453272, nssv1453273, nssv1453281, nssv1453286, nssv1453268, nssv1453269, nssv1453287
Samples
Known GenesGGNBP2, PIGW
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)nsv833428
Frequency
Sample Size95
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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