A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17397093



Internal ID22454963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45751809..45751809hg38UCSC Ensembl
chr2:45978948..45978948hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5955016
Supporting Variants
Samples
Known GenesPRKCE
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17397093
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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