A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547114



Internal ID320995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44498943..44499037hg38UCSC Ensembl
chr21:45918826..45918920hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727138
Samples
Known GenesTSPEAR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547114
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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