A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444229



Internal ID222609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22699132..22775478hg38UCSC Ensembl
chr4:22700755..22777101hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3876347
hg1976347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16946284
Samples
Known GenesGBA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444229
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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