A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548052



Internal ID15557939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196819731..196832186hg38UCSC Ensembl
Outerchr1:196788861..196801316hg19UCSC Ensembl
Outerchr1:195055484..195067939hg18UCSC Ensembl
Outerchr1:193520518..193532973hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3812456
hg1912456
hg1812456
hg1712456
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471353
Supporting Variants
SamplesJDW
Known GenesCFHR1
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
CommentsCFHR1
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548052
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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