A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5878283



Internal ID22653248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43904669..43904729hg38UCSC Ensembl
chr1:44370341..44370401hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382426
Samples
Known GenesST3GAL3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5878283
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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