A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978630



Internal ID22753565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80343485..80343485hg38UCSC Ensembl
chr12:80737265..80737265hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366723
Samples
Known GenesOTOGL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978630
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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