A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471457



Internal ID15558623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:7563789..7582653hg38UCSC Ensembl
Outerchr8:7421311..7440175hg19UCSC Ensembl
Outerchr8:7408721..7427585hg18UCSC Ensembl
Outerchr8:7408721..7427585hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3818865
hg1918865
hg1818865
hg1718865
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548334, nssv548332, nssv548335
SamplesNA18507, YH, JDW
Known GenesFAM90A7P
MethodSequencing
AnalysisUsing absolute estimates of copy number, we calculated an in silico log2 ratio for each of the three genome-wide comparisons and compared it with the experimental values determined by array CGH.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsFAM90A7
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471457
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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