A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18211930



Internal ID20778970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54372819..54383067hg38UCSC Ensembl
chr4:55238986..55249234hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3810249
hg1910249
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6394571
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18211930
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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