A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4449146



Internal ID22115323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73315116..73315116hg38UCSC Ensembl
chr8:74227351..74227351hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15762225
Samples
Known GenesRDH10
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4449146
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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