A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394682



Internal ID174110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241523029..241523080hg38UCSC Ensembl
chr2:242462444..242462495hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928799
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394682
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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