A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6254817



Internal ID22059427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70980827..70980827hg38UCSC Ensembl
chr1:71446510..71446510hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17855213
Samples
Known GenesPTGER3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6254817
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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