A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213144



Internal ID20780184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122538551..122539237hg38UCSC Ensembl
chr5:121874246..121874932hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38687
hg19687
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6399743
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213144
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00073


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