A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5413493



Internal ID192783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58944675..58944726hg38UCSC Ensembl
chr3:58930401..58930452hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16934591
Samples
Known GenesC3orf67
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5413493
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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