A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4445272



Internal ID22111452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64037987..64037987hg38UCSC Ensembl
chr14:64504705..64504705hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15767909
Samples
Known GenesMIR548AZ, SYNE2
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4445272
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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