A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5395517



Internal ID174940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20694475..20694526hg38UCSC Ensembl
chr2:20894235..20894286hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911170
Samples
Known GenesC2orf43
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5395517
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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