A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202979



Internal ID20770019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49408273..49415394hg38UCSC Ensembl
chr20:48024810..48031931hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg387122
hg197122
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6551781
Supporting Variants
Samples
Known GenesKCNB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202979
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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