A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471445



Internal ID15558611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:75507748..75528064hg38UCSC Ensembl
Outerchr7:75137070..75157394hg19UCSC Ensembl
Outerchr7:74975006..74995330hg18UCSC Ensembl
Outerchr7:74781721..74802045hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3820317
hg1920325
hg1820325
hg1720325
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548297, nssv548296, nssv548298
SamplesNA18507, YH, JDW
Known GenesPMS2P3
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
CommentsPMS2L3
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471445
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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