A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18094231



Internal ID20661271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130735212..130735681hg38UCSC Ensembl
chr3:130454056..130454525hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6361058
Supporting Variants
Samples
Known GenesPIK3R4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18094231
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00082


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