A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17733754



Internal ID157420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:5029000..5047000hg38UCSC Ensembl
chr21:45636546..45654380hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3818001
hg1917835
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146554
Supporting Variants
Samples
Known GenesICOSLG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17733754
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000394


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