A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522646



Internal ID298909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40481765..40485078hg38UCSC Ensembl
chr19:40987672..40990985hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg383314
hg193314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723413
Samples
Known GenesSPTBN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522646
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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