A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181



Internal ID15497742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7967601..7978673hg38UCSC Ensembl
Outerchr8:7967098..7979258hg38UCSC Ensembl
Innerchr8:7825123..7836195hg19UCSC Ensembl
Outerchr8:7824620..7836780hg19UCSC Ensembl
Innerchr8:7862533..7873605hg18UCSC Ensembl
Outerchr8:7862030..7874190hg18UCSC Ensembl
Innerchr8:7862533..7873605hg17UCSC Ensembl
Outerchr8:7862030..7874190hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3812161
hg1912161
hg1812161
hg1712161
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA19240
Known GenesFAM66E, USP17L3, USP17L8
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)nssv18181
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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