A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19994



Internal ID15487213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7984512..7985355hg38UCSC Ensembl
Outerchr8:7982002..7985941hg38UCSC Ensembl
Innerchr8:7842034..7842877hg19UCSC Ensembl
Outerchr8:7839524..7843463hg19UCSC Ensembl
Innerchr8:7879444..7880287hg18UCSC Ensembl
Outerchr8:7876934..7880873hg18UCSC Ensembl
Innerchr8:7879444..7880287hg17UCSC Ensembl
Outerchr8:7876934..7880873hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383940
hg193940
hg183940
hg173940
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18517
Known GenesFAM66E
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)nssv19994
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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