A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506054



Internal ID282809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92243055..92256626hg38UCSC Ensembl
chr12:92636831..92650402hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3813572
hg1913572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684092
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506054
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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