A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18211219



Internal ID20778259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69075501..69082700hg38UCSC Ensembl
chr3:69124652..69131851hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg387200
hg197200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6371295
Supporting Variants
Samples
Known GenesUBA3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18211219
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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