A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541630



Internal ID316208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36941102..36945033hg38UCSC Ensembl
chr21:38313402..38317333hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg383932
hg193932
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726804
Samples
Known GenesHLCS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541630
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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