A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5979589



Internal ID22754524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114022688..114022688hg38UCSC Ensembl
chr12:114460493..114460493hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365766
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5979589
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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