A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748680



Internal ID20524707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3834298..3834352hg38UCSC Ensembl
chr1:3750862..3750916hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16275608
Samples
Known GenesCEP104
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4748680
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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