A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471402



Internal ID15558568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46590672..46757467hg38UCSC Ensembl
Outerchr17:44668038..44834833hg19UCSC Ensembl
Outerchr17:42023354..42190000hg18UCSC Ensembl
Outerchr17:42023354..42190000hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38166796
hg19166796
hg18166647
hg17166647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548177, nssv548179
SamplesYH, JDW
Known GenesNSF, NSFP1
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
CommentsNSF
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471402
Frequency
Sample Size3
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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