A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471426



Internal ID15211906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207523601..207578262hg38UCSC Ensembl
Outerchr1:207696946..207751607hg19UCSC Ensembl
Outerchr1:205763569..205818230hg18UCSC Ensembl
Outerchr1:204085341..204140002hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3854662
hg1954662
hg1854662
hg1754662
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548278, nssv548267, nssv548256
SamplesNA18507, YH, JDW
Known GenesCR1
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
CommentsCR1
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471426
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer