A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17398578



Internal ID22456448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46434832..46564680hg38UCSC Ensembl
chr21:47854745..47984593hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38129849
hg19129849
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5950772
Supporting Variants
Samples
Known GenesDIP2A, DIP2A-IT1, PCNT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17398578
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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