A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889572



Internal ID22664591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:25764591..25764671hg38UCSC Ensembl
chr3:25806082..25806162hg19UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17423722
Samples
Known GenesNGLY1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889572
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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