A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524409



Internal ID300617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40470308..40471803hg38UCSC Ensembl
chr19:40976215..40977710hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381496
hg191496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723411
Samples
Known GenesSPTBN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524409
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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