A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684130



Internal ID107796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93336354..93336405hg38UCSC Ensembl
chr12:93730130..93730181hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421040
Supporting Variants
Samples
Known GenesLOC643339
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684130
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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