A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496190



Internal ID273272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123380864..123384021hg38UCSC Ensembl
chr12:123865411..123868568hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383158
hg193158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690803
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496190
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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