A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548163



Internal ID15211525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:36194872..36196757hg38UCSC Ensembl
Outerchr17:34623845..34625730hg19UCSC Ensembl
Outerchr17:31647958..31649843hg18UCSC Ensembl
Outerchr17:31647958..31649843hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381886
hg191886
hg181886
hg171886
Variant TypeCNV gain
Copy Number6
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471397
Supporting Variants
SamplesNA18507
Known GenesCCL3L1, CCL3L3
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
CommentsCCL3L1
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548163
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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