A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689610



Internal ID113276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:83156636..83158552hg38UCSC Ensembl
chr12:83550415..83552331hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381917
hg191917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504565
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689610
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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