A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3184722



Internal ID22338303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:105571333..105573592hg38UCSC Ensembl
chr1:106113955..106116214hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg382260
hg192260
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv357n152
Supporting Variantsnssv14441015
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)nsv3184722
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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