A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193141



Internal ID20760181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121643240..121645003hg38UCSC Ensembl
chr12:122081146..122082909hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381764
hg191764
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6492272
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193141
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01969


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