A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18010242



Internal ID20577282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:56211101..56213100hg38UCSC Ensembl
chr13:56785235..56787234hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6476242
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18010242
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00047


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