A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6531787



Internal ID20905148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:13590632..13926074hg38UCSC Ensembl
chr20:13571279..13906720hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38335443
hg19335442
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202178
Samples
Known GenesESF1, NDUFAF5, SEL1L2, TASP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6531787
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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