A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065852



Internal ID18808383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:49502654..49643666hg38UCSC Ensembl
Innerchr20:48119191..48260203hg19UCSC Ensembl
Innerchr20:47552598..47693610hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38141013
hg19141013
hg18141013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584954
Samples
Known GenesB4GALT5, PTGIS
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065852
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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