A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17852498



Internal ID22036141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106149896..106149896hg38UCSC Ensembl
chr2:106766352..106766352hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6252817
Supporting Variants
Samples
Known GenesUXS1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17852498
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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