A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4445930



Internal ID22112108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:64011752..64011752hg38UCSC Ensembl
chr20:62643105..62643105hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15761903
Samples
Known GenesPRPF6
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4445930
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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