A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402393



Internal ID181763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8390191..8390242hg38UCSC Ensembl
chr2:8530321..8530372hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909671
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402393
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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