A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18331



Internal ID15497759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12150816..12167348hg38UCSC Ensembl
Outerchr8:12147954..12168120hg38UCSC Ensembl
Innerchr8:12008325..12024857hg19UCSC Ensembl
Outerchr8:12005463..12025629hg19UCSC Ensembl
Innerchr8:12045734..12062266hg18UCSC Ensembl
Outerchr8:12042872..12063038hg18UCSC Ensembl
Innerchr8:12045734..12062266hg17UCSC Ensembl
Outerchr8:12042872..12063038hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3820167
hg1920167
hg1820167
hg1720167
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA19240
Known GenesFAM66D
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)nssv18331
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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