A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25623



Internal ID15493929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57657053..57665598hg38UCSC Ensembl
Outerchr20:57656127..57666162hg38UCSC Ensembl
Innerchr20:56232109..56240654hg19UCSC Ensembl
Outerchr20:56231183..56241218hg19UCSC Ensembl
Innerchr20:55665515..55674060hg18UCSC Ensembl
Outerchr20:55664589..55674624hg18UCSC Ensembl
Innerchr20:55665515..55674060hg17UCSC Ensembl
Outerchr20:55664589..55674624hg17UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3810036
hg1910036
hg1810036
hg1710036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9817
Supporting Variants
SamplesNA18980
Known GenesPMEPA1
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)nssv25623
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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