A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398568



Internal ID177964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:30625076..30625127hg38UCSC Ensembl
chr3:30666568..30666619hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16930422
Samples
Known GenesTGFBR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5398568
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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