A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19347



Internal ID15495497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:15332020..15333158hg38UCSC Ensembl
Outerchr8:15330841..15334350hg38UCSC Ensembl
Innerchr8:15189529..15190667hg19UCSC Ensembl
Outerchr8:15188350..15191859hg19UCSC Ensembl
Innerchr8:15233900..15235038hg18UCSC Ensembl
Outerchr8:15232721..15236230hg18UCSC Ensembl
Innerchr8:15233900..15235038hg17UCSC Ensembl
Outerchr8:15232721..15236230hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg383510
hg193510
hg183510
hg173510
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8298
Supporting Variants
SamplesNA19132
Known Genes
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)nssv19347
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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