A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5950809



Internal ID22726201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45941065..45941065hg38UCSC Ensembl
chr2:46168204..46168204hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17405535
Samples
Known GenesPRKCE
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5950809
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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