A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6249599



Internal ID22054209
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 StatusM
Merged Variants
Supporting Variantsnssv17845991
Samples
Known GenesABHD13
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6249599
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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