A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203887



Internal ID20770927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56465301..56471300hg38UCSC Ensembl
chr20:55040357..55046356hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg386000
hg196000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6539154
Supporting Variants
Samples
Known GenesRTFDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203887
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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