A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987777



Internal ID21897120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218828158..218830835hg38UCSC Ensembl
chr2:219692881..219695558hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382678
hg192678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17520300
Samples
Known GenesPRKAG3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987777
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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