A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17851631



Internal ID22035274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55645466..55645466hg38UCSC Ensembl
chr2:55872601..55872601hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6252434
Supporting Variants
Samples
Known GenesPNPT1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17851631
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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