A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4446228



Internal ID22112407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:64594564..64594564hg38UCSC Ensembl
chr11:64362036..64362036hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38230
hg19230
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15761630
Samples
Known GenesSLC22A12
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4446228
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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