A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399400



Internal ID178789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:58625978..58626025hg38UCSC Ensembl
chr5:57921805..57921852hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966082
Samples
Known GenesRAB3C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399400
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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