A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890249



Internal ID167660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151043132..151043183hg38UCSC Ensembl
chr1:151015608..151015659hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5400526
Supporting Variants
Samples
Known GenesBNIPL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890249
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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