A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471498



Internal ID15211978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:69555418..70025106hg38UCSC Ensembl
Outerchr5:68851245..69320933hg19UCSC Ensembl
Outerchr5:68887001..69356689hg18UCSC Ensembl
Outerchr5:68887001..69356689hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38469689
hg19469689
hg18469689
hg17469689
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547835, nssv547836, nssv547837
SamplesNA18507, JDW, YH
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, OCLN, SMA4
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
CommentsLOC728340
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471498
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