A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16947476



Internal ID32351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41229958..41229958hg38UCSC Ensembl
chr4:41231975..41231975hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5550509
Supporting Variants
Samples
Known GenesUCHL1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16947476
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.020483


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