A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4437817



Internal ID22103998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66798379..66798682hg38UCSC Ensembl
chr17:64794497..64794800hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15759698
Samples
Known GenesPRKCA
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4437817
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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