A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6254105



Internal ID22058715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62265174..62265174hg38UCSC Ensembl
chr3:62250849..62250849hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17854970
Samples
Known GenesPTPRG, PTPRG-AS1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6254105
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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