A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834269



Internal ID9425120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16855283..17038531hg38UCSC Ensembl
Outerchr1:17181778..17365026hg19UCSC Ensembl
Outerchr1:17054365..17237613hg18UCSC Ensembl
Outerchr1:16927084..17110332hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38183249
hg19183249
hg18183249
hg17183249
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1443495, nssv1443584, nssv1443506, nssv1443606, nssv1443651, nssv1443540, nssv1443529, nssv1443662, nssv1443484, nssv1443429, nssv1443573, nssv1443617, nssv1443518, nssv1443451, nssv1443440, nssv1443562, nssv1443629, nssv1443640, nssv1443595, nssv1443462, nssv1443473, nssv1443551
Samples
Known GenesATP13A2, CROCC, MFAP2, MIR3675, SDHB
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)nsv834269
Frequency
Sample Size95
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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