A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203251



Internal ID20770291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54181697..55084353hg38UCSC Ensembl
chr20:52798236..53700892hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38902657
hg19902657
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6555546
Supporting Variants
Samples
Known GenesDOK5, PFDN4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203251
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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