A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548302



Internal ID15558387
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471446
Supporting Variants
SamplesYH
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)nssv548302
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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