A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684320



Internal ID107986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108687783..108695613hg38UCSC Ensembl
chr12:109081559..109089389hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg387831
hg197831
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504790
Supporting Variants
Samples
Known GenesCORO1C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684320
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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