A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545583



Internal ID22414590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50006138..50006138hg38UCSC Ensembl
chr19:50509395..50509395hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38506
hg19506
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14448025
SamplesHG00733
Known GenesVRK3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3545583
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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