A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26204



Internal ID15835124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:28878039..28884459hg38UCSC Ensembl
Outerchr21:28876741..28884888hg38UCSC Ensembl
Innerchr21:30250361..30256781hg19UCSC Ensembl
Outerchr21:30249063..30257210hg19UCSC Ensembl
Innerchr21:29172232..29178652hg18UCSC Ensembl
Outerchr21:29170934..29179081hg18UCSC Ensembl
Innerchr21:29172232..29178652hg17UCSC Ensembl
Outerchr21:29170934..29179081hg17UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg388148
hg198148
hg188148
hg178148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9862
Supporting Variants
SamplesNA18537
Known GenesN6AMT1
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)nssv26204
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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