A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723593



Internal ID147259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45635181..45661370hg38UCSC Ensembl
chr19:46138439..46164628hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3826190
hg1926190
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523085
Supporting Variants
Samples
Known GenesC19orf83, EML2, MIR330
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723593
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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