A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471421



Internal ID15211901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10413520..10454661hg38UCSC Ensembl
Outerchr21:11057796..11098937hg19UCSC Ensembl
Outerchr21:10079667..10120808hg18UCSC Ensembl
Outerchr21:10079667..10120808hg17UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3841142
hg1941142
hg1841142
hg1741142
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548232, nssv548234, nssv548235
SamplesNA18507, YH, JDW
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
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
CommentsBAGE
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471421
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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