A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471395



Internal ID15211875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:36088257..36090160hg38UCSC Ensembl
Outerchr17:34415603..34417506hg19UCSC Ensembl
Outerchr17:31439716..31441619hg18UCSC Ensembl
Outerchr17:31439716..31441619hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381904
hg191904
hg181904
hg171904
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548159, nssv548158, nssv548157
SamplesNA18507, JDW, YH
Known GenesCCL3
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
CommentsCCL3
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471395
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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