A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406791



Internal ID186128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:120572560..120572611hg38UCSC Ensembl
chr8:121584800..121584851hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17016951
Samples
Known GenesSNTB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406791
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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