A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720310



Internal ID143976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1878118..1878169hg38UCSC Ensembl
chr19:1878117..1878168hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383224
hg193224
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556481
Supporting Variants
Samples
Known GenesABHD17A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720310
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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