A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689937



Internal ID113603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:90412005..90412005hg38UCSC Ensembl
chr12:90805782..90805782hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38632
hg19632
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5537271
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689937
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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