A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25122



Internal ID15837622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:37675813..37676790hg38UCSC Ensembl
Outerchr20:37674418..37677265hg38UCSC Ensembl
Innerchr20:36304215..36305192hg19UCSC Ensembl
Outerchr20:36302820..36305667hg19UCSC Ensembl
Innerchr20:35737629..35738606hg18UCSC Ensembl
Outerchr20:35736234..35739081hg18UCSC Ensembl
Innerchr20:35737629..35738606hg17UCSC Ensembl
Outerchr20:35736234..35739081hg17UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg382848
hg192848
hg182848
hg172848
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9806
Supporting Variants
SamplesNA18853
Known GenesLOC100287792
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)nssv25122
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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