A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058275



Internal ID106718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49408787..49415092hg38UCSC Ensembl
chr12:49802570..49808875hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg386306
hg196306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511544
Supporting Variants
Samples
Known GenesSPATS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058275
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001874


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