A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519686



Internal ID15446979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:102366220..102459786hg38UCSC Ensembl
Innerchr5:101701924..101795490hg19UCSC Ensembl
Innerchr5:101729823..101823389hg18UCSC Ensembl
Innerchr5:101729823..101823389hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3893567
hg1993567
hg1893567
hg1793567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv350n21
Supporting Variantsnssv696992
Samples
Known GenesSLCO6A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519686
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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