A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16164



Internal ID15840272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6972406..7021186hg38UCSC Ensembl
Outerchr8:6971877..7021337hg38UCSC Ensembl
Innerchr8:6829928..6878708hg19UCSC Ensembl
Outerchr8:6829399..6878859hg19UCSC Ensembl
Innerchr8:6817338..6866118hg18UCSC Ensembl
Outerchr8:6816809..6866269hg18UCSC Ensembl
Innerchr8:6817338..6866118hg17UCSC Ensembl
Outerchr8:6816809..6866269hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3849461
hg1949461
hg1849461
hg1749461
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8278
Supporting Variants
SamplesNA18975
Known GenesDEFA1, DEFA1B, DEFA3, DEFT1P, DEFT1P2
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)nssv16164
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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