A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27088



Internal ID15844929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:438001..439454hg38UCSC Ensembl
Outerchr20:437495..441316hg38UCSC Ensembl
Innerchr20:418645..420098hg19UCSC Ensembl
Outerchr20:418139..421960hg19UCSC Ensembl
Innerchr20:366645..368098hg18UCSC Ensembl
Outerchr20:366139..369960hg18UCSC Ensembl
Innerchr20:366645..368098hg17UCSC Ensembl
Outerchr20:366139..369960hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg383822
hg193822
hg183822
hg173822
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9774
Supporting Variants
SamplesNA19240
Known GenesTBC1D20
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)nssv27088
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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