A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471446



Internal ID15558612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:76461655..76505995hg38UCSC Ensembl
Outerchr7:76090972..76135312hg19UCSC Ensembl
Outerchr7:75928908..75973248hg18UCSC Ensembl
Outerchr7:75735623..75779963hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3844341
hg1944341
hg1844341
hg1744341
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548299, nssv548302, nssv548301
SamplesNA18507, YH, JDW
Known GenesDTX2, FDPSP2
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
CommentsDTX2
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471446
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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