A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923191



Internal ID16222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188737535..188737586hg38UCSC Ensembl
chr2:189602262..189602313hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5404225
Supporting Variants
Samples
Known GenesDIRC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923191
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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