A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27682



Internal ID15832931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:8623508..8629032hg38UCSC Ensembl
Outerchr20:8622985..8629711hg38UCSC Ensembl
Innerchr20:8604155..8609679hg19UCSC Ensembl
Outerchr20:8603632..8610358hg19UCSC Ensembl
Innerchr20:8552155..8557679hg18UCSC Ensembl
Outerchr20:8551632..8558358hg18UCSC Ensembl
Innerchr20:8552155..8557679hg17UCSC Ensembl
Outerchr20:8551632..8558358hg17UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg386727
hg196727
hg186727
hg176727
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9782
Supporting Variants
SamplesNA18502
Known GenesPLCB1
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv27682
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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