A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20460



Internal ID15843482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6983645..6999513hg38UCSC Ensembl
Outerchr8:6983619..7000164hg38UCSC Ensembl
Innerchr8:6841167..6857035hg19UCSC Ensembl
Outerchr8:6841141..6857686hg19UCSC Ensembl
Innerchr8:6828577..6844445hg18UCSC Ensembl
Outerchr8:6828551..6845096hg18UCSC Ensembl
Innerchr8:6828577..6844445hg17UCSC Ensembl
Outerchr8:6828551..6845096hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3816546
hg1916546
hg1816546
hg1716546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8278
Supporting Variants
SamplesNA19221
Known GenesDEFA1, DEFA1B, 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)nssv20460
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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