A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548384



Internal ID15211619
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 Number5
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471477
Supporting Variants
SamplesYH
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)nssv548384
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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