A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213147



Internal ID20780187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122982482..122991590hg38UCSC Ensembl
chr5:122318177..122327285hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg389109
hg199109
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6413374
Supporting Variants
Samples
Known GenesSNX24
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213147
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