A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18088806



Internal ID20655846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60056447..60061182hg38UCSC Ensembl
chr2:60283582..60288317hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg384736
hg194736
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6337308
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18088806
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00089


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