A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17944



Internal ID15828638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:116797676..116859542hg38UCSC Ensembl
Outerchr9:116791945..116964895hg38UCSC Ensembl
Innerchr9:119559955..119621821hg19UCSC Ensembl
Outerchr9:119554224..119727174hg19UCSC Ensembl
Innerchr9:118599776..118661642hg18UCSC Ensembl
Outerchr9:118594045..118766995hg18UCSC Ensembl
Innerchr9:116639509..116701375hg17UCSC Ensembl
Outerchr9:116633778..116806728hg17UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg38172951
hg19172951
hg18172951
hg17172951
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8565
Supporting Variants
SamplesNA10839
Known GenesASTN2
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)nssv17944
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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