A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548161



Internal ID15558210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:36103827..36105621hg38UCSC Ensembl
Outerchr17:34431220..34433014hg19UCSC Ensembl
Outerchr17:31455333..31457127hg18UCSC Ensembl
Outerchr17:31455333..31457127hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381795
hg191795
hg181795
hg171795
Variant TypeCNV gain
Copy Number5
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471396
Supporting Variants
SamplesNA18507
Known GenesCCL4
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
CommentsCCL4
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548161
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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