A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908358



Internal ID6365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93623781..93623832hg38UCSC Ensembl
chr1:94089338..94089389hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5405250
Supporting Variants
Samples
Known GenesBCAR3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908358
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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