A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471477



Internal ID15211957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:7894128..7930068hg38UCSC Ensembl
Outerchr8:7751650..7787590hg19UCSC Ensembl
Outerchr8:7789060..7825000hg18UCSC Ensembl
Outerchr8:7789060..7825000hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3835941
hg1935941
hg1835941
hg1735941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548384, nssv548383
SamplesNA18507, YH
Known GenesDEFB4A, ZNF705B
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
CommentsDEFB4
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471477
Frequency
Sample Size3
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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