A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17846286



Internal ID22029929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52675776..52675776hg38UCSC Ensembl
chr13:53249911..53249911hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6249076
Supporting Variants
Samples
Known GenesSUGT1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17846286
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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