A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28022



Internal ID15495326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46549392..46562898hg38UCSC Ensembl
Outerchr2:46548217..46563427hg38UCSC Ensembl
Innerchr2:46776531..46790037hg19UCSC Ensembl
Outerchr2:46775356..46790566hg19UCSC Ensembl
Innerchr2:46630035..46643541hg18UCSC Ensembl
Outerchr2:46628860..46644070hg18UCSC Ensembl
Innerchr2:46688182..46701688hg17UCSC Ensembl
Outerchr2:46687007..46702217hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3815211
hg1915211
hg1815211
hg1715211
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9713
Supporting Variants
SamplesNA19132
Known GenesRHOQ
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)nssv28022
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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