A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14410267



Internal ID22316452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:135155643..135155722hg38UCSC Ensembl
chr3:134874485..134874564hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3171923
Supporting Variants
SamplesNA19240
Known GenesEPHB1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14410267
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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