A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499404



Internal ID276378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92011550..92011625hg38UCSC Ensembl
chr12:92405326..92405401hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690028
Samples
Known GenesC12orf79
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499404
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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