A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209972



Internal ID20777012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:5149107..5237602hg38UCSC Ensembl
chr3:5190792..5279287hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3888496
hg1988496
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6367521
Supporting Variants
Samples
Known GenesARL8B, EDEM1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209972
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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