A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10449



Internal ID15498726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:9827165..9831146hg38UCSC Ensembl
Outerchr4:9828789..9832770hg19UCSC Ensembl
Outerchr4:9437887..9441868hg18UCSC Ensembl
Outerchr4:9505058..9509039hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg383982
hg193982
hg183982
hg173982
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv12711
SamplesNA18860
Known GenesSLC2A9
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)nsv10449
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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