A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18388



Internal ID15495804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39151612..39279983hg38UCSC Ensembl
Outerchr9:39150978..39280359hg38UCSC Ensembl
Innerchr9:39151609..39279980hg19UCSC Ensembl
Outerchr9:39150975..39280356hg19UCSC Ensembl
Innerchr9:39141609..39269980hg18UCSC Ensembl
Outerchr9:39140975..39270356hg18UCSC Ensembl
Innerchr9:39141609..39269980hg17UCSC Ensembl
Outerchr9:39140975..39270356hg17UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38129382
hg19129382
hg18129382
hg17129382
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8450
Supporting Variants
SamplesNA19144
Known GenesCNTNAP3
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)nssv18388
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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