A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692571



Internal ID116237
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 StatusS
Merged Variantsnsv5534280
Supporting Variants
Samples
Known GenesUBAC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17692571
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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