A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18048



Internal ID15489889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39078648..39079138hg38UCSC Ensembl
Outerchr9:39078343..39079711hg38UCSC Ensembl
Innerchr9:39078645..39079135hg19UCSC Ensembl
Outerchr9:39078340..39079708hg19UCSC Ensembl
Innerchr9:39068645..39069135hg18UCSC Ensembl
Outerchr9:39068340..39069708hg18UCSC Ensembl
Innerchr9:39068645..39069135hg17UCSC Ensembl
Outerchr9:39068340..39069708hg17UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg381369
hg191369
hg181369
hg171369
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8450
Supporting Variants
SamplesNA18564
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)nssv18048
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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