A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401886



Internal ID181261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:68504708..68504759hg38UCSC Ensembl
chr3:68553859..68553910hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933216
Samples
Known GenesFAM19A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401886
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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