A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519709



Internal ID296056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40572699..40573049hg38UCSC Ensembl
chr19:41078605..41078955hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723418
Samples
Known GenesSPTBN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519709
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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