A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471353



Internal ID15558519
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548053, nssv548052, nssv548054
SamplesNA18507, YH, JDW
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)nsv471353
Frequency
Sample Size3
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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