A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4448469



Internal ID22114646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126473080..126473080hg38UCSC Ensembl
chr11:126342975..126342975hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15760051
Samples
Known GenesKIRREL3
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4448469
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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