A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5526002



Internal ID302148
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 StatusM
Merged Variants
Supporting Variantsnssv17725275
Samples
Known GenesCLPTM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5526002
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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