A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27812



Internal ID15833139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10527637..10619346hg38UCSC Ensembl
Outerchr21:10526069..10625002hg38UCSC Ensembl
Innerchr21:10893111..10984820hg19UCSC Ensembl
Outerchr21:10887455..10986388hg19UCSC Ensembl
Innerchr21:9914982..10006691hg18UCSC Ensembl
Outerchr21:9909326..10008259hg18UCSC Ensembl
Innerchr21:9914982..10006691hg17UCSC Ensembl
Outerchr21:9909326..10008259hg17UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3898934
hg1998934
hg1898934
hg1798934
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9837
Supporting Variants
SamplesNA18502
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)nssv27812
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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