A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425426



Internal ID204389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:73782212..73782263hg38UCSC Ensembl
chr12:74175992..74176043hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689114
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425426
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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