A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3189111



Internal ID22340609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:138866054..138866310hg38UCSC Ensembl
chr2:139623624..139623880hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14450090
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3189111
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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