A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15187288



Internal ID21326121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41249242..41249242hg38UCSC Ensembl
chr21:42621169..42621169hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3943500
Supporting Variants
SamplesHG002
Known GenesBACE2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15187288
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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