A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498765



Internal ID275749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110052948..110053244hg38UCSC Ensembl
chr12:110490753..110491049hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684406
Samples
Known GenesC12orf76
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498765
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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