A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10226



Internal ID15498503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240482405..240575049hg38UCSC Ensembl
Outerchr2:241421822..241514466hg19UCSC Ensembl
Outerchr2:241070495..241163139hg18UCSC Ensembl
Outerchr2:241141812..241234456hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3892645
hg1992645
hg1892645
hg1792645
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28711
SamplesNA18942
Known GenesANKMY1, DUSP28, RNPEPL1
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)nsv10226
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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