A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203354



Internal ID20770394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:59938701..59941200hg38UCSC Ensembl
chr20:58513756..58516255hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6544355
Supporting Variants
Samples
Known GenesFAM217B, PPP1R3D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203354
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00011


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