A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528366



Internal ID304425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40469786..40470376hg38UCSC Ensembl
chr19:40975693..40976283hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38591
hg19591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723410
Samples
Known GenesSPTBN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528366
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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