A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5912349



Internal ID22687565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19678576..19701398hg38UCSC Ensembl
chr8:19536087..19558909hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3822823
hg1922823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17442570
Samples
Known GenesCSGALNACT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5912349
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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