A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183288



Internal ID20750328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88100060..88119525hg38UCSC Ensembl
chr12:88493837..88513302hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3819466
hg1919466
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6462903
Supporting Variants
Samples
Known GenesCEP290
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183288
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