A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548232



Internal ID322006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33625336..33629487hg38UCSC Ensembl
chr21:34997642..35001793hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg384152
hg194152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726676
Samples
Known GenesCRYZL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548232
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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