A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398709



Internal ID178104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172160945..172160996hg38UCSC Ensembl
chr5:171587949..171588000hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976715
Samples
Known GenesSTK10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5398709
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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