A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4761538



Internal ID20537398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46626842..46626842hg38UCSC Ensembl
chr20:45255481..45255481hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16274520
Samples
Known GenesSLC13A3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4761538
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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