A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503448



Internal ID280274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124723656..124724841hg38UCSC Ensembl
chr12:125208202..125209387hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381186
hg191186
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690902
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503448
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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