A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27402



Internal ID15835070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91931496..91986509hg38UCSC Ensembl
Outerchr2:91931171..91987301hg38UCSC Ensembl
Innerchr2:92119522..92174535hg19UCSC Ensembl
Outerchr2:92119197..92175327hg19UCSC Ensembl
Innerchr2:91483249..91538262hg18UCSC Ensembl
Outerchr2:91482924..91539054hg18UCSC Ensembl
Innerchr2:91541396..91596409hg17UCSC Ensembl
Outerchr2:91541071..91597201hg17UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg3856131
hg1956131
hg1856131
hg1756131
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10085
Supporting Variants
SamplesNA18537
Known GenesACTR3BP2
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)nssv27402
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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