A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16652



Internal ID15480864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7713521..7769776hg38UCSC Ensembl
Outerchr8:7713398..7769804hg38UCSC Ensembl
Innerchr8:7571043..7627298hg19UCSC Ensembl
Outerchr8:7570920..7627326hg19UCSC Ensembl
Innerchr8:7608453..7664708hg18UCSC Ensembl
Outerchr8:7608330..7664736hg18UCSC Ensembl
Innerchr8:7608453..7664708hg17UCSC Ensembl
Outerchr8:7608330..7664736hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3856407
hg1956407
hg1856407
hg1756407
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA07029
Known GenesFAM90A10P
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)nssv16652
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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