A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833883



Internal ID16111066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:56001235..56128720hg38UCSC Ensembl
Outerchr19:56512601..56640089hg19UCSC Ensembl
Outerchr19:61204413..61331901hg18UCSC Ensembl
Outerchr19:61204413..61331901hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38127486
hg19127489
hg18127489
hg17127489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1454871, nssv1454870
Samples
Known GenesNLRP5, ZNF787
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)nsv833883
Frequency
Sample Size95
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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