A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11799



Internal ID15831123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:193684174..193684910hg38UCSC Ensembl
Outerchr3:193681495..193685362hg38UCSC Ensembl
Innerchr3:193401963..193402699hg19UCSC Ensembl
Outerchr3:193399284..193403151hg19UCSC Ensembl
Innerchr3:194884657..194885393hg18UCSC Ensembl
Outerchr3:194881978..194885845hg18UCSC Ensembl
Innerchr3:194884665..194885401hg17UCSC Ensembl
Outerchr3:194881986..194885853hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg383868
hg193868
hg183868
hg173868
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10376
Supporting Variants
SamplesNA12740
Known GenesOPA1
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)nssv11799
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer