A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5960647



Internal ID22735617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:58612522..58612522hg38UCSC Ensembl
chr5:57908349..57908349hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17422298
Samples
Known GenesRAB3C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5960647
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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