A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3181389



Internal ID22336548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199463339..199463408hg38UCSC Ensembl
chr2:200328062..200328131hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14463672
SamplesHG00733
Known GenesSATB2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3181389
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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