A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831915



Internal ID16109098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:173299285..173513018hg38UCSC Ensembl
Outerchr1:173268424..173482157hg19UCSC Ensembl
Outerchr1:171535047..171748780hg18UCSC Ensembl
Outerchr1:170000081..170213814hg17UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38213734
hg19213734
hg18213734
hg17213734
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1451461, nssv1451394, nssv1451372, nssv1451361, nssv1451439, nssv1451317, nssv1451339, nssv1451306, nssv1451450, nssv1451295, nssv1451406, nssv1451428, nssv1451328, nssv1451350, nssv1451383, nssv1451417
Samples
Known GenesLOC100506023, PRDX6, SLC9C2
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)nsv831915
Frequency
Sample Size95
Observed Gain5
Observed Loss11
Observed Complex0
Frequencyn/a


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