A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058212



Internal ID106668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48939781..48939995hg38UCSC Ensembl
chr12:49333564..49333778hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495996
Supporting Variants
Samples
Known GenesARF3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058212
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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