A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690133



Internal ID113799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:97156980..97156980hg38UCSC Ensembl
chr12:97550758..97550758hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5432338
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690133
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.091469


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