A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5403128



Internal ID182491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172945302..172945305hg38UCSC Ensembl
chr3:172663092..172663095hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16941393
Samples
Known GenesSPATA16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5403128
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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