A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17390576



Internal ID22448446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33160339..33197581hg38UCSC Ensembl
chr21:34532645..34569886hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3837243
hg1937242
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5957075
Supporting Variants
Samples
Known GenesC21orf54
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17390576
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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