A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471466



Internal ID15211946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:39072769..39288303hg38UCSC Ensembl
Outerchr9:39072766..39288300hg19UCSC Ensembl
Outerchr9:39062766..39278300hg18UCSC Ensembl
Outerchr9:39062766..39278300hg17UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38215535
hg19215535
hg18215535
hg17215535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548359, nssv548360, nssv548361
SamplesNA18507, JDW, YH
Known GenesCNTNAP3
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
CommentsCNTNAP3
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471466
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer