A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833455



Internal ID16110638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:44108553..44297300hg38UCSC Ensembl
Outerchr17:42185921..42374668hg19UCSC Ensembl
Outerchr17:39541447..39730194hg18UCSC Ensembl
Outerchr17:39541447..39730194hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38188748
hg19188748
hg18188748
hg17188748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1453421, nssv1453416, nssv1453415, nssv1453419, nssv1453417, nssv1453418, nssv1453422, nssv1453420
Samples
Known GenesASB16, ASB16-AS1, ATXN7L3, C17orf53, HDAC5, MIR6782, SLC4A1, TMUB2, UBTF
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)nsv833455
Frequency
Sample Size95
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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