A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24628



Internal ID15484005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33497512..33499156hg38UCSC Ensembl
Outerchr16:33496983..33499642hg38UCSC Ensembl
Innerchr16:33299979..33301623hg19UCSC Ensembl
Outerchr16:33299450..33302109hg19UCSC Ensembl
Innerchr16:33207480..33209124hg18UCSC Ensembl
Outerchr16:33206951..33209610hg18UCSC Ensembl
Innerchr16:33207480..33209124hg17UCSC Ensembl
Outerchr16:33206951..33209610hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382660
hg192660
hg182660
hg172660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA12155
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)nssv24628
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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