A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17853209



Internal ID22036852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222693555..222693555hg38UCSC Ensembl
chr2:223558274..223558274hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6253431
Supporting Variants
Samples
Known GenesMOGAT1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17853209
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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