A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833888



Internal ID16111071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:58339999..58477044hg38UCSC Ensembl
Outerchr19:58851365..58988411hg19UCSC Ensembl
Outerchr19:63543177..63680223hg18UCSC Ensembl
Outerchr19:63543177..63680223hg17UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38137046
hg19137047
hg18137047
hg17137047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1454884, nssv1454886, nssv1454885
Samples
Known GenesA1BG, A1BG-AS1, LOC646862, MIR4754, RPS5, ZNF132, ZNF324, ZNF324B, ZNF446, ZNF497, ZNF584, ZNF837, ZSCAN22
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)nsv833888
Frequency
Sample Size95
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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