A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203347



Internal ID20770387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:5910301..5916000hg38UCSC Ensembl
chr20:5890947..5896646hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg385700
hg195700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6527268
Supporting Variants
Samples
Known GenesCHGB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203347
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00028


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