A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4447290



Internal ID22113467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17911873..17911873hg38UCSC Ensembl
chr22:18394639..18394639hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15766997
Samples
Known GenesMICAL3
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4447290
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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