A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482142



Internal ID15581349
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558503
SamplesKB1
Known GenesCFHR1
MethodSequencing
AnalysisWe constructed duplication maps for the KB1 genome and estimated the absolute copy number of each duplication interval larger than 20 kb in length. Using absolute estimates of copy number, we calculated an in silico log2 ratio for each the KB1 genome and compared copy number predictions with previously published copy numbers detected in NA18507 and YH genomes.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsCFHR1
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482142
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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