A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5964707



Internal ID22739642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25956110..25956110hg38UCSC Ensembl
chr8:25813626..25813626hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17436866
Samples
Known GenesEBF2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5964707
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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