A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28296



Internal ID15835425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111751515..111841092hg38UCSC Ensembl
Outerchr2:111749422..111841998hg38UCSC Ensembl
Innerchr2:112509092..112598669hg19UCSC Ensembl
Outerchr2:112506999..112599575hg19UCSC Ensembl
Innerchr2:112225563..112315140hg18UCSC Ensembl
Outerchr2:112223470..112316046hg18UCSC Ensembl
Innerchr2:112225323..112314900hg17UCSC Ensembl
Outerchr2:112223230..112315806hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3892577
hg1992577
hg1892577
hg1792577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10127
Supporting Variants
SamplesNA18552
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)nssv28296
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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