A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17849929



Internal ID22033572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49370388..49370388hg38UCSC Ensembl
chr19:49873645..49873645hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6251095
Supporting Variants
Samples
Known GenesDKKL1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17849929
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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