A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412916



Internal ID192215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112096701..112096732hg38UCSC Ensembl
chr6:112417904..112417935hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16986444
Samples
Known GenesFAM229B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412916
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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