A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24938



Internal ID15830557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55774017..55779369hg38UCSC Ensembl
Outerchr16:55773308..55781325hg38UCSC Ensembl
Innerchr16:55807929..55813281hg19UCSC Ensembl
Outerchr16:55807220..55815237hg19UCSC Ensembl
Innerchr16:54365430..54370782hg18UCSC Ensembl
Outerchr16:54364721..54372738hg18UCSC Ensembl
Innerchr16:54365430..54370782hg17UCSC Ensembl
Outerchr16:54364721..54372738hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg388018
hg198018
hg188018
hg178018
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9445
Supporting Variants
SamplesNA12155
Known GenesCES1P1
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)nssv24938
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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