A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17848252



Internal ID22031895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:33457873..33457873hg38UCSC Ensembl
chr19:33948779..33948779hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6251004
Supporting Variants
Samples
Known GenesPEPD
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17848252
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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