A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512398



Internal ID288952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111416149..111421448hg38UCSC Ensembl
chr12:111853953..111859252hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg385300
hg195300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684483
Samples
Known GenesSH2B3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512398
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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