A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957075



Internal ID22732215
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 StatusM
Merged Variants
Supporting Variantsnssv17390576
Samples
Known GenesC21orf54
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957075
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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