A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684406



Internal ID108072
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 StatusS
Merged Variantsnsv5498765
Supporting Variants
Samples
Known GenesC12orf76
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684406
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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