A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056725



Internal ID105649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46315440..46316681hg38UCSC Ensembl
chr12:46709223..46710464hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381242
hg191242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508359
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056725
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.003122


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