A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20603



Internal ID15492803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39283553..39287674hg38UCSC Ensembl
Outerchr9:39283053..39287996hg38UCSC Ensembl
Innerchr9:39283550..39287671hg19UCSC Ensembl
Outerchr9:39283050..39287993hg19UCSC Ensembl
Innerchr9:39273550..39277671hg18UCSC Ensembl
Outerchr9:39273050..39277993hg18UCSC Ensembl
Innerchr9:39273550..39277671hg17UCSC Ensembl
Outerchr9:39273050..39277993hg17UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg384944
hg194944
hg184944
hg174944
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8450
Supporting Variants
SamplesNA18972
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)nssv20603
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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