A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6249536



Internal ID22054146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99236975..99236975hg38UCSC Ensembl
chr13:99889229..99889229hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17845545
Samples
Known GenesMIR548AN, UBAC2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6249536
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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