A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534280



Internal ID310099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99208141..99208232hg38UCSC Ensembl
chr13:99860395..99860486hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692571
Samples
Known GenesUBAC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534280
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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