A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424823



Internal ID203798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46349635..46349686hg38UCSC Ensembl
chr20:44978274..44978325hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732667
Samples
Known GenesSLC35C2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424823
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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