A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3181789



Internal ID22336758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199462825..199463196hg38UCSC Ensembl
chr2:200327548..200327919hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14456362
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)nsv3181789
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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