A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916154



Internal ID11488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75108173..75108224hg38UCSC Ensembl
chr2:75335299..75335350hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5397500
Supporting Variants
Samples
Known GenesTACR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916154
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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