A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4438713



Internal ID22104890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48829590..48829590hg38UCSC Ensembl
chr3:48867023..48867023hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15757748
Samples
Known GenesPRKAR2A
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4438713
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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