A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248836



Internal ID22053446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:27730581..27730581hg38UCSC Ensembl
chr13:28304718..28304718hg19UCSC Ensembl
Cytoband13q12.2
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 Variantsnssv17844752
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248836
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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