A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725275



Internal ID148941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44965271..44998775hg38UCSC Ensembl
chr19:45468528..45502033hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3833505
hg1933506
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526002
Supporting Variants
Samples
Known GenesCLPTM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725275
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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