A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25249



Internal ID15488797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10459288..10478755hg38UCSC Ensembl
Outerchr21:10458586..10479844hg38UCSC Ensembl
Innerchr21:11033702..11053169hg19UCSC Ensembl
Outerchr21:11032613..11053871hg19UCSC Ensembl
Innerchr21:10055573..10075040hg18UCSC Ensembl
Outerchr21:10054484..10075742hg18UCSC Ensembl
Innerchr21:10055573..10075040hg17UCSC Ensembl
Outerchr21:10054484..10075742hg17UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3821259
hg1921259
hg1821259
hg1721259
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9838
Supporting Variants
SamplesNA18552
Known GenesBAGE2, BAGE3, BAGE4, BAGE5
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)nssv25249
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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