A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4448298



Internal ID22114476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55433460..55433460hg38UCSC Ensembl
chr5:54729288..54729288hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15765378
Samples
Known GenesPPAP2A
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4448298
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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