A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194056



Internal ID20761096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50093589..50103023hg38UCSC Ensembl
chr17:48170953..48180387hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg389435
hg199435
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6532636
Supporting Variants
Samples
Known GenesPDK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194056
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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