A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17851781



Internal ID22035424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30597896..30597896hg38UCSC Ensembl
chr22:30993883..30993883hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6252072
Supporting Variants
Samples
Known GenesPES1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17851781
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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