A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9816



Internal ID15847728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:51766921..51769516hg38UCSC Ensembl
Outerchr20:50383460..50386055hg19UCSC Ensembl
Outerchr20:49816867..49819462hg18UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv27784, nssv21965, nssv27181, nssv22331, nssv25925
SamplesNA18502, NA18504, NA10847, NA12872, NA12740
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)nsv9816
Frequency
Sample Size31
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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