A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18101138



Internal ID20668178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:25749201..25751639hg38UCSC Ensembl
chr3:25790692..25793130hg19UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg382439
hg192439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6359224
Supporting Variants
Samples
Known GenesNGLY1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18101138
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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