A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5400019



Internal ID179403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229288226..229288277hg38UCSC Ensembl
chr1:229423973..229424024hg19UCSC Ensembl
Cytoband1q42.13
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 Variantsnssv16898309
Samples
Known GenesRAB4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5400019
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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