A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16283



Internal ID15492660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181444454..181447102hg38UCSC Ensembl
Outerchr5:181443415..181452161hg38UCSC Ensembl
Innerchr5:180871455..180874103hg19UCSC Ensembl
Outerchr5:180870416..180879162hg19UCSC Ensembl
Innerchr5:180804061..180806709hg18UCSC Ensembl
Outerchr5:180803022..180811768hg18UCSC Ensembl
Innerchr5:180804061..180806709hg17UCSC Ensembl
Outerchr5:180803022..180811768hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388747
hg198747
hg188747
hg178747
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10793
Supporting Variants
SamplesNA18972
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)nssv16283
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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