A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543069



Internal ID22412133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48829679..48829679hg38UCSC Ensembl
chr3:48867112..48867112hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14423459
SamplesHG00514
Known GenesPRKAR2A
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3543069
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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