A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058286



Internal ID106727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49448283..49450647hg38UCSC Ensembl
chr12:49842066..49844430hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382365
hg192365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510396
Supporting Variants
Samples
Known GenesSPATS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058286
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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