A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5537619



Internal ID312866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29098338..29101192hg38UCSC Ensembl
chr21:30470659..30473513hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg382855
hg192855
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726503
Samples
Known GenesMAP3K7CL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5537619
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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