A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831514



Internal ID16455383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149682369..149741210hg38UCSC Ensembl
Outerchr1:149653952..149712760hg19UCSC Ensembl
Outerchr1:147920576..147979384hg18UCSC Ensembl
Outerchr1:146467025..146525833hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3858842
hg1958809
hg1858809
hg1758809
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1450529, nssv1450540, nssv1450518, nssv1450506
Samples
Known GenesLINC00869
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)nsv831514
Frequency
Sample Size95
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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