A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14379596



Internal ID22328431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:95747272..95747362hg38UCSC Ensembl
chr11:95480436..95480526hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248366
Supporting Variants
SamplesNA19240
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)nssv14379596
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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