A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4447114



Internal ID22113291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26278986..26278986hg38UCSC Ensembl
chr22:26674952..26674952hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15766200
Samples
Known GenesSEZ6L
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4447114
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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