A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833859



Internal ID9424710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48997009..49173266hg38UCSC Ensembl
Outerchr19:49500266..49676523hg19UCSC Ensembl
Outerchr19:54192078..54368335hg18UCSC Ensembl
Outerchr19:54192078..54368335hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38176258
hg19176258
hg18176258
hg17176258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1454788, nssv1454783, nssv1454786, nssv1454787, nssv1454785, nssv1454784
Samples
Known GenesC19orf73, CGB, CGB1, CGB2, CGB5, CGB7, CGB8, HRC, KCNA7, LHB, LIN7B, LOC101059948, MIR6798, NTF4, PPFIA3, RUVBL2, SNAR-G1, SNAR-G2, SNRNP70, TRPM4
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)nsv833859
Frequency
Sample Size95
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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