A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548297



Internal ID15558251
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 Number10
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471445
Supporting Variants
SamplesNA18507
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)nssv548297
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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