A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16913972



Internal ID10068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69182877..69182928hg38UCSC Ensembl
chr2:69410009..69410060hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401727
Supporting Variants
Samples
Known GenesANTXR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16913972
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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