A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19874



Internal ID15487231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7301329..7313187hg38UCSC Ensembl
Outerchr8:7300904..7313500hg38UCSC Ensembl
Innerchr8:7158851..7170709hg19UCSC Ensembl
Outerchr8:7158426..7171022hg19UCSC Ensembl
Innerchr8:7146261..7158119hg18UCSC Ensembl
Outerchr8:7145836..7158432hg18UCSC Ensembl
Innerchr8:7146261..7158119hg17UCSC Ensembl
Outerchr8:7145836..7158432hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3812597
hg1912597
hg1812597
hg1712597
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18517
Known GenesDEFB109P1B, FAM66B
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)nssv19874
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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