A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4447941



Internal ID22114119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49926595..49926595hg38UCSC Ensembl
chr22:50320243..50320243hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15761800
Samples
Known GenesCRELD2
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4447941
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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