A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28467



Internal ID15830409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94763164..94781978hg38UCSC Ensembl
Outerchr2:94762711..94786562hg38UCSC Ensembl
Innerchr2:95428909..95447723hg19UCSC Ensembl
Outerchr2:95428456..95452307hg19UCSC Ensembl
Innerchr2:94792636..94811450hg18UCSC Ensembl
Outerchr2:94792183..94816034hg18UCSC Ensembl
Innerchr2:94850783..94869597hg17UCSC Ensembl
Outerchr2:94850330..94874181hg17UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3823852
hg1923852
hg1823852
hg1723852
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10088
Supporting Variants
SamplesNA12155
Known GenesANKRD20A8P
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)nssv28467
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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