A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6511993



Internal ID20885323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32220608..32228586hg38UCSC Ensembl
chr17:30547627..30555605hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg387979
hg197979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184884
Samples
Known GenesRHOT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6511993
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