A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471403



Internal ID15558569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:47531078..47623276hg38UCSC Ensembl
Outerchr17:45608444..45700642hg19UCSC Ensembl
Outerchr17:42963443..43055641hg18UCSC Ensembl
Outerchr17:42963443..43055641hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3892199
hg1992199
hg1892199
hg1792199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548182, nssv548181, nssv548180
SamplesNA18507, YH, JDW
Known GenesNPEPPS
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
CommentsNPEPPS
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471403
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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