A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6054736



Internal ID21963970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44951187..44952182hg38UCSC Ensembl
chr21:46371102..46372097hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38996
hg19996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17647111
Samples
Known GenesFAM207A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6054736
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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