A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1448701



Internal ID16099305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:100458231..100678922hg38UCSC Ensembl
Outerchr10:102217988..102438679hg19UCSC Ensembl
Outerchr10:102207978..102428669hg18UCSC Ensembl
Outerchr10:102207978..102428669hg17UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg38220692
hg19220692
hg18220692
hg17220692
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv831963
Supporting Variants
Samples
Known GenesHIF1AN, NDUFB8, SEC31B, WNT8B
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)nssv1448701
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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