A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748121



Internal ID20524145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:38183446..38183575hg38UCSC Ensembl
chr18:35763410..35763539hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16259648
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4748121
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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