A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1445963



Internal ID16443253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:48713186..48895189hg38UCSC Ensembl
Outerchr1:49178858..49360861hg19UCSC Ensembl
Outerchr1:48951445..49133448hg18UCSC Ensembl
Outerchr1:48890878..49072881hg17UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38182004
hg19182004
hg18182004
hg17182004
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv829771
Supporting Variants
Samples
Known GenesAGBL4, BEND5
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)nssv1445963
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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