A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18211221



Internal ID20778261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69271193..69294470hg38UCSC Ensembl
chr3:69320344..69343621hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3823278
hg1923278
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6360489
Supporting Variants
Samples
Known GenesFRMD4B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18211221
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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