A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18079720



Internal ID20646760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164840187..164840575hg38UCSC Ensembl
chr2:165696697..165697085hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38389
hg19389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6335616
Supporting Variants
Samples
Known GenesCOBLL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18079720
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00184


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