A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056474



Internal ID105469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50272262..50274303hg38UCSC Ensembl
chr12:50666045..50668086hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382042
hg192042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495346
Supporting Variants
Samples
Known GenesLIMA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056474
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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