A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399558



Internal ID178946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:98435567..98435567hg38UCSC Ensembl
chr2:99052030..99052030hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917545
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399558
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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