A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4442479



Internal ID22108662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17658944..17658944hg38UCSC Ensembl
chr20:17639589..17639589hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38480
hg19480
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15760930
Samples
Known GenesRRBP1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4442479
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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