A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202919



Internal ID20769959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47214621..47219289hg38UCSC Ensembl
chr20:45843266..45847940hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg384669
hg194675
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6540503
Supporting Variants
Samples
Known GenesZMYND8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202919
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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