A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6260372



Internal ID22064982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:58747168..58747168hg38UCSC Ensembl
chr5:58042995..58042995hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17858521
Samples
Known GenesRAB3C
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6260372
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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