A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412967



Internal ID192266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3355949..3355980hg38UCSC Ensembl
chr6:3356183..3356214hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16978018
Samples
Known GenesSLC22A23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412967
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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