A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10085



Internal ID15845048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:91879774..91987301hg38UCSC Ensembl
Outerchr2:92067800..92175327hg19UCSC Ensembl
Outerchr2:91431527..91539054hg18UCSC Ensembl
Outerchr2:91489674..91597201hg17UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38107528
hg19107528
hg18107528
hg17107528
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27506, nssv27402, nssv25464, nssv28142
SamplesNA18502, NA11830, NA18537, NA19144
Known GenesACTR3BP2
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)nsv10085
Frequency
Sample Size31
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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