A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3187335



Internal ID22339674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130946143..130946458hg38UCSC Ensembl
chr2:131703716..131704031hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14408686
SamplesNA19240
Known GenesARHGEF4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3187335
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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