A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28683



Internal ID15843764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10525683..10597018hg38UCSC Ensembl
Outerchr21:10524671..10618541hg38UCSC Ensembl
Innerchr21:10915439..10986774hg19UCSC Ensembl
Outerchr21:10893916..10987786hg19UCSC Ensembl
Innerchr21:9937310..10008645hg18UCSC Ensembl
Outerchr21:9915787..10009657hg18UCSC Ensembl
Innerchr21:9937310..10008645hg17UCSC Ensembl
Outerchr21:9915787..10009657hg17UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3893871
hg1993871
hg1893871
hg1793871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9837
Supporting Variants
SamplesNA19221
Known GenesTPTE
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)nssv28683
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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