A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14456111



Internal ID22250415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:188015037..188016975hg38UCSC Ensembl
chr3:187732825..187734763hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg381939
hg191939
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234276
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14456111
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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