A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058679



Internal ID106983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53490600..53491125hg38UCSC Ensembl
chr12:53884384..53884909hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38526
hg19526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498346
Supporting Variants
Samples
Known GenesMAP3K12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058679
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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