A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17852285



Internal ID22035928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44676116..44676116hg38UCSC Ensembl
chr1:45141788..45141788hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6252879
Supporting Variants
Samples
Known GenesC1orf228
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17852285
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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