A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17852670



Internal ID22036313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100793136..100793136hg38UCSC Ensembl
chr3:100511980..100511980hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6254408
Supporting Variants
Samples
Known GenesABI3BP
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17852670
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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