A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4446491



Internal ID22112670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37823947..37823947hg38UCSC Ensembl
chr21:39196249..39196249hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15763694
Samples
Known GenesKCNJ6
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4446491
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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