A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889669



Internal ID167207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117371208..117371259hg38UCSC Ensembl
chr1:117913830..117913881hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401123
Supporting Variants
Samples
Known GenesMAN1A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889669
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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