A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5962777



Internal ID22737712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18228433..18228433hg38UCSC Ensembl
chr10:18517362..18517362hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365800
Samples
Known GenesCACNB2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5962777
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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