A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248039



Internal ID22052649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43803869..43803869hg38UCSC Ensembl
chr11:43825419..43825419hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17842398
Samples
Known GenesHSD17B12
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248039
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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