A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv280



Internal ID15383766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178582957..178593236hg38UCSC Ensembl
Outerchr5:178009958..178020237hg19UCSC Ensembl
Outerchr5:177942564..177952843hg18UCSC Ensembl
Outerchr5:177942564..177952843hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg389614
hg199614
hg189614
hg179614
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv280
SamplesNA15510
Known GenesCOL23A1
MethodSequencing
AnalysisFosmids were categorized as discordant if the in silico size was in excess of three standard deviations from the mean (<32 or 48> kb) and/or showed incorrect orientation of ends
PlatformCapillary
Comments
ReferenceTuzun_et_al_2005
Pubmed ID15895083
Accession Number(s)nsv280
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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