A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984660



Internal ID21894003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65613471..65613741hg38UCSC Ensembl
chr1:66079154..66079424hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17531969
Samples
Known GenesLEPR
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984660
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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