A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18083255



Internal ID20650295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190124479..190129592hg38UCSC Ensembl
chr2:190989205..190994318hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg385114
hg195114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6352070
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18083255
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00069


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