A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5874452



Internal ID22649404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86041149..86041211hg38UCSC Ensembl
chr2:86268272..86268334hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396399
Samples
Known GenesPOLR1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5874452
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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