A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204122



Internal ID20771162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43934101..43936200hg38UCSC Ensembl
chr21:45353982..45356081hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6536802
Supporting Variants
Samples
Known GenesAGPAT3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204122
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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