A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4449547



Internal ID22115724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191975318..191975318hg38UCSC Ensembl
chr2:192840044..192840044hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15767509
Samples
Known GenesTMEFF2
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4449547
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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