A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205426



Internal ID20772466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190531501..190545400hg38UCSC Ensembl
chr2:191396227..191410126hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3813900
hg1913900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6342548
Supporting Variants
Samples
Known GenesTMEM194B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205426
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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