A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511088



Internal ID287687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:106553857..106553908hg38UCSC Ensembl
chr13:107206205..107206256hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692328
Samples
Known GenesARGLU1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511088
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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