A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471433



Internal ID15558599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:70924941..70953009hg38UCSC Ensembl
Outerchr5:70220768..70248836hg19UCSC Ensembl
Outerchr5:70256524..70284592hg18UCSC Ensembl
Outerchr5:70256524..70284592hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3828069
hg1928069
hg1828069
hg1728069
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548266
SamplesJDW
Known GenesSMN1, SMN2
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
CommentsSMN1
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471433
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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