A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5883364



Internal ID22658343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:80291045..80293717hg38UCSC Ensembl
chr2:80518170..80520842hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg382673
hg192673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407550
Samples
Known GenesCTNNA2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5883364
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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