A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684184



Internal ID107850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94360189..94360215hg38UCSC Ensembl
chr12:94753965..94753991hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426926
Supporting Variants
Samples
Known GenesCCDC41
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684184
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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