A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478372



Internal ID255931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12454918..12458336hg38UCSC Ensembl
chr10:12496917..12500335hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg383419
hg193419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17030756
Samples
Known GenesCAMK1D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478372
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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