A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5397588



Internal ID176994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169225637..169225688hg38UCSC Ensembl
chr4:170146788..170146839hg19UCSC Ensembl
Cytoband4q33
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 Variantsnssv16959126
Samples
Known GenesSH3RF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5397588
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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