A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471404



Internal ID15558570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196812967..196921215hg38UCSC Ensembl
Outerchr1:196782097..196890345hg19UCSC Ensembl
Outerchr1:195048720..195156968hg18UCSC Ensembl
Outerchr1:193513754..193622002hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38108249
hg19108249
hg18108249
hg17108249
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3n31
Supporting Variantsnssv548211, nssv548222
SamplesYH, JDW
Known GenesCFHR1, CFHR4
MethodSequencing
AnalysisWe constructed duplication maps for each of the three genomes and estimated the absolute copy number of each duplication interval larger than 20 kb in length. We considered a given segment to be duplicated within an individual if the median estimated copy number for that individual was >2.5.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsCFHR1
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471404
Frequency
Sample Size3
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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