A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17733758



Internal ID157424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:5114000..5120000hg38UCSC Ensembl
chr21:45561934..45567855hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg386001
hg195922
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146435
Supporting Variants
Samples
Known GenesC21orf33
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17733758
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004367


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