A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5848446



Internal ID22623381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111291713..111293712hg38UCSC Ensembl
chr12:111729517..111731516hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17460089
Samples
Known GenesCUX2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5848446
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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