A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968365



Internal ID22743300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124997214..124997214hg38UCSC Ensembl
chr12:125481760..125481760hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351528
Samples
Known GenesBRI3BP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968365
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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