A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17852840



Internal ID22036483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183259890..183259890hg38UCSC Ensembl
chr3:182977678..182977678hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6260087
Supporting Variants
Samples
Known GenesB3GNT5, MCF2L2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17852840
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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