A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12641



Internal ID15832356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:123285853..123286439hg38UCSC Ensembl
Outerchr5:123285340..123289200hg38UCSC Ensembl
Innerchr5:122621547..122622133hg19UCSC Ensembl
Outerchr5:122621034..122624894hg19UCSC Ensembl
Innerchr5:122649446..122650032hg18UCSC Ensembl
Outerchr5:122648933..122652793hg18UCSC Ensembl
Innerchr5:122649446..122650032hg17UCSC Ensembl
Outerchr5:122648933..122652793hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg383861
hg193861
hg183861
hg173861
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10747
Supporting Variants
SamplesNA12872
Known Genes
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)nssv12641
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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