A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14683



Internal ID15833387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21834900..21836954hg38UCSC Ensembl
Outerchr5:21833905..21837871hg38UCSC Ensembl
Innerchr5:21835009..21837063hg19UCSC Ensembl
Outerchr5:21834014..21837980hg19UCSC Ensembl
Innerchr5:21870766..21872820hg18UCSC Ensembl
Outerchr5:21869771..21873737hg18UCSC Ensembl
Innerchr5:21870766..21872820hg17UCSC Ensembl
Outerchr5:21869771..21873737hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg383967
hg193967
hg183967
hg173967
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10684
Supporting Variants
SamplesNA18504
Known GenesCDH12
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)nssv14683
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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