A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27181



Internal ID15833755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:51767934..51769016hg38UCSC Ensembl
Outerchr20:51766921..51769516hg38UCSC Ensembl
Innerchr20:50384473..50385555hg19UCSC Ensembl
Outerchr20:50383460..50386055hg19UCSC Ensembl
Innerchr20:49817880..49818962hg18UCSC Ensembl
Outerchr20:49816867..49819462hg18UCSC Ensembl
Innerchr20:49817880..49818962hg17UCSC Ensembl
Outerchr20:49816867..49819462hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg382596
hg192596
hg182596
hg172596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9816
Supporting Variants
SamplesNA18504
Known GenesATP9A
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)nssv27181
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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