A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5400764



Internal ID180143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218983363..218983414hg38UCSC Ensembl
chr2:219848085..219848136hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925963
Samples
Known GenesFEV
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5400764
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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