A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544441



Internal ID318585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10623061..10623061hg38UCSC Ensembl
chr12:10775660..10775660hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053052
Samples
Known GenesSTYK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544441
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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