A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748784



Internal ID20524811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108623647..108623705hg38UCSC Ensembl
chr12:109017423..109017481hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16271793
Samples
Known GenesSELPLG
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4748784
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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