A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209920



Internal ID20776960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54536977..54572405hg38UCSC Ensembl
chr2:54764114..54799542hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3835429
hg1935429
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6345359
Supporting Variants
Samples
Known GenesSPTBN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209920
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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