A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831524



Internal ID16108707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:19440356..19622086hg38UCSC Ensembl
Outerchr9:19440354..19622084hg19UCSC Ensembl
Outerchr9:19430354..19612084hg18UCSC Ensembl
Outerchr9:19430354..19612084hg17UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg38181731
hg19181731
hg18181731
hg17181731
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1447579, nssv1447580
Samples
Known GenesACER2, SLC24A2
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)nsv831524
Frequency
Sample Size95
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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