A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18220335



Internal ID20787375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47750935..47779806hg38UCSC Ensembl
chr8:48663497..48692367hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3828872
hg1928871
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6429187
Supporting Variants
Samples
Known GenesPRKDC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18220335
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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