A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412418



Internal ID191720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60614220..60614220hg38UCSC Ensembl
chr8:61526779..61526779hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012511
Samples
Known GenesRAB2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412418
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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