A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548392



Internal ID15211346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:12003313..12202446hg38UCSC Ensembl
Outerchr8:11860822..12059955hg19UCSC Ensembl
Outerchr8:11898231..12097364hg18UCSC Ensembl
Outerchr8:11898231..12097364hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38199134
hg19199134
hg18199134
hg17199134
Variant TypeCNV gain
Copy Number10
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471480
Supporting Variants
SamplesJDW
Known GenesDEFB130, FAM66D, FAM86B1, FAM90A2P, LOC100133267, LOC392196, USP17L2, USP17L7, ZNF705D
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
CommentsDUB3
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548392
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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