A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4446973



Internal ID22113150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17103639..17103639hg38UCSC Ensembl
chr22:17584529..17584529hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15761776
Samples
Known GenesIL17RA
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4446973
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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