A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889029



Internal ID22664040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48651981..48661449hg38UCSC Ensembl
chr4:48653998..48663466hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg389469
hg199469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17412389
Samples
Known GenesFRYL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889029
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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