A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17034191



Internal ID90488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51691159..51691230hg38UCSC Ensembl
chr10:53450919..53450990hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5475565
Supporting Variants
Samples
Known GenesPRKG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17034191
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000469


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