A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398598



Internal ID177994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:167364103..167364103hg38UCSC Ensembl
chr5:166791108..166791108hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16978537
Samples
Known GenesTENM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5398598
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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