A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725669



Internal ID149335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55388874..55406874hg38UCSC Ensembl
chr19:55900242..55918242hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3818001
hg1918001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146293
Supporting Variants
Samples
Known GenesRPL28, UBE2S
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725669
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000158


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