A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28462



Internal ID15828139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111720544..111846025hg38UCSC Ensembl
Outerchr2:111719602..111847218hg38UCSC Ensembl
Innerchr2:112478121..112603602hg19UCSC Ensembl
Outerchr2:112477179..112604795hg19UCSC Ensembl
Innerchr2:112194592..112320073hg18UCSC Ensembl
Outerchr2:112193650..112321266hg18UCSC Ensembl
Innerchr2:112194352..112319833hg17UCSC 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 StatusS
Merged Variantsnsv10127
Supporting Variants
SamplesNA07048
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)nssv28462
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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