A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16280703



Internal ID20489921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42579516..42579516hg38UCSC Ensembl
chr21:43999626..43999626hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4759773
Supporting Variants
Samples
Known GenesSLC37A1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16280703
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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