A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17845991



Internal ID22029634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:108223466..108223466hg38UCSC Ensembl
chr13:108875814..108875814hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6249599
Supporting Variants
Samples
Known GenesABHD13
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17845991
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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