A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3541189



Internal ID22410302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:262329..262329hg38UCSC Ensembl
chr3:304012..304012hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38855
hg19855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14422955
SamplesHG00514
Known GenesCHL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3541189
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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