A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471435



Internal ID15558601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:140670797..140673586hg38UCSC Ensembl
Outerchr5:140050382..140053171hg19UCSC Ensembl
Outerchr5:140030566..140033355hg18UCSC Ensembl
Outerchr5:140030566..140033355hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382790
hg192790
hg182790
hg172790
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548272, nssv548273, nssv548271
SamplesNA18507, YH, JDW
Known GenesDND1, WDR55
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
CommentsDND1
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471435
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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