A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503665



Internal ID280486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107067312..107067386hg38UCSC Ensembl
chr12:107461090..107461164hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690649
Samples
Known GenesCRY1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503665
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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