A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406922



Internal ID186258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:79697477..79697528hg38UCSC Ensembl
chr6:80407194..80407245hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16983912
Samples
Known GenesSH3BGRL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406922
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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