A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055485



Internal ID104825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26848741..26848779hg38UCSC Ensembl
chr12:27001674..27001712hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423294
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055485
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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