A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10127



Internal ID15845090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:111719602..111847218hg38UCSC Ensembl
Outerchr2:112477179..112604795hg19UCSC Ensembl
Outerchr2:112193650..112321266hg18UCSC Ensembl
Outerchr2:112193410..112321026hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38127617
hg19127617
hg18127617
hg17127617
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28462, nssv27931, nssv28296, nssv28693
SamplesNA07048, NA10839, NA18572, NA18552
Known GenesANAPC1, MIR4771-1, MIR4771-2
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)nsv10127
Frequency
Sample Size31
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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