A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412250



Internal ID191553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:65665894..65665945hg38UCSC Ensembl
chr5:64961721..64961772hg19UCSC Ensembl
Cytoband5q12.3
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 Variantsnssv16968302
Samples
Known GenesSGTB, TRAPPC13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412250
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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