A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17722069



Internal ID145735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19016842..19016842hg38UCSC Ensembl
chr19:19127651..19127651hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381290
hg191290
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561956
Supporting Variants
Samples
Known GenesSUGP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17722069
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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