A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550749



Internal ID324268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34567808..34891808hg38UCSC Ensembl
chr21:35940106..36264105hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38324001
hg19324000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734724
Samples
Known GenesCLIC6, LINC00160, LOC100506385, RCAN1, RUNX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550749
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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