A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5992992



Internal ID21902335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196246928..196247006hg38UCSC Ensembl
chr3:195973799..195973877hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17556699
Samples
Known GenesPCYT1A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5992992
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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