A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548360



Internal ID15211587
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 Number5
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471466
Supporting Variants
SamplesNA18507
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)nssv548360
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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