A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14408686



Internal ID22304909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130946143..130946458hg38UCSC Ensembl
chr2:131703716..131704031hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3187335
Supporting Variants
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)nssv14408686
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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