A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17842520



Internal ID22026163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:13495058..13495058hg38UCSC Ensembl
chr11:13516605..13516605hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6247789
Supporting Variants
Samples
Known GenesPTH
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17842520
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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