A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548177



Internal ID15557927
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471402
Supporting Variants
SamplesJDW
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)nssv548177
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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