A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058598



Internal ID106925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51525232..51542909hg38UCSC Ensembl
chr12:51919016..51936693hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3817678
hg1917678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504056
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058598
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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