A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4768253



Internal ID20544113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2085595..2085595hg38UCSC Ensembl
chr1:2017034..2017034hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16259835
Samples
Known GenesPRKCZ
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4768253
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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