A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17842398



Internal ID22026041
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 StatusS
Merged Variantsnsv6248039
Supporting Variants
Samples
Known GenesHSD17B12
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17842398
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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