A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5996875



Internal ID21906218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22666880..22858808hg38UCSC Ensembl
chr4:22668503..22860431hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38191929
hg19191929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17539337
Samples
Known GenesGBA3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5996875
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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