A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5400824



Internal ID180203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25137820..25137871hg38UCSC Ensembl
chr2:25360689..25360740hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910315
Samples
Known GenesEFR3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5400824
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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