A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15311



Internal ID15485389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7331698..7342766hg38UCSC Ensembl
Outerchr8:7331113..7343270hg38UCSC Ensembl
Innerchr8:7189220..7200288hg19UCSC Ensembl
Outerchr8:7188635..7200792hg19UCSC Ensembl
Innerchr8:7176630..7187698hg18UCSC Ensembl
Outerchr8:7176045..7188202hg18UCSC Ensembl
Innerchr8:7176630..7187698hg17UCSC Ensembl
Outerchr8:7176045..7188202hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3812158
hg1912158
hg1812158
hg1712158
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA12872
Known GenesFAM66B, USP17L1P, USP17L4
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)nssv15311
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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