A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941989



Internal ID22717420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98040280..98047008hg38UCSC Ensembl
chr12:98434058..98440786hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg386729
hg196729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353845
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941989
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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