A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690089



Internal ID113755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96286161..96286648hg38UCSC Ensembl
chr12:96679939..96680426hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497947
Supporting Variants
Samples
Known GenesCDK17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690089
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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