A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497947



Internal ID274960
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 StatusM
Merged Variants
Supporting Variantsnssv17690089
Samples
Known GenesCDK17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497947
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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