A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720344



Internal ID144010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2098344..2098562hg38UCSC Ensembl
chr19:2098343..2098561hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5515249
Supporting Variants
Samples
Known GenesIZUMO4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720344
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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