A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725178



Internal ID148844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43474542..43474593hg38UCSC Ensembl
chr19:43978694..43978745hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423823
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725178
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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