A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3186094



Internal ID22339012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46633660..46634075hg38UCSC Ensembl
chr2:46860799..46861214hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14421212
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3186094
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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