A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058513



Internal ID106863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50717811..50718003hg38UCSC Ensembl
chr12:51111594..51111786hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5540055
Supporting Variants
Samples
Known GenesDIP2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058513
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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