A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4763696



Internal ID20539556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41249233..41249233hg38UCSC Ensembl
chr21:42621160..42621160hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16260301
Samples
Known GenesBACE2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4763696
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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