A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548294



Internal ID15558250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:131700469..131701401hg38UCSC Ensembl
Outerchr6:132021609..132022541hg19UCSC Ensembl
Outerchr6:132063302..132064234hg18UCSC Ensembl
Outerchr6:132063302..132064234hg17UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38933
hg19933
hg18933
hg17933
Variant TypeCNV gain
Copy Number5
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471444
Supporting Variants
SamplesNA18507
Known GenesENPP3, OR2A4
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
CommentsOR2A4
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548294
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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