A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4444348



Internal ID22110528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:29642199..29642199hg38UCSC Ensembl
chr14:30111405..30111405hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15759379
Samples
Known GenesMIR548AI, PRKD1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4444348
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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