A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19812



Internal ID15486032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39151612..39205533hg38UCSC Ensembl
Outerchr9:39150978..39206582hg38UCSC Ensembl
Innerchr9:39151609..39205530hg19UCSC Ensembl
Outerchr9:39150975..39206579hg19UCSC Ensembl
Innerchr9:39141609..39195530hg18UCSC Ensembl
Outerchr9:39140975..39196579hg18UCSC Ensembl
Innerchr9:39141609..39195530hg17UCSC Ensembl
Outerchr9:39140975..39196579hg17UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3855605
hg1955605
hg1855605
hg1755605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8450
Supporting Variants
SamplesNA18502
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)nssv19812
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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