A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17943



Internal ID15481335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:33386563..33402113hg38UCSC Ensembl
Outerchr9:33364856..33422604hg38UCSC Ensembl
Innerchr9:33386561..33402111hg19UCSC Ensembl
Outerchr9:33364854..33422602hg19UCSC Ensembl
Innerchr9:33376561..33392111hg18UCSC Ensembl
Outerchr9:33354854..33412602hg18UCSC Ensembl
Innerchr9:33376561..33392111hg17UCSC Ensembl
Outerchr9:33354854..33412602hg17UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg3857749
hg1957749
hg1857749
hg1757749
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8439
Supporting Variants
SamplesNA07048
Known GenesAQP7, NFX1
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)nssv17943
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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