A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417569



Internal ID196762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:37380643..37380694hg38UCSC Ensembl
chr19:37871545..37871596hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723182
Samples
Known GenesZNF527
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417569
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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