A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3187556



Internal ID22339793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80307647..80307723hg38UCSC Ensembl
chr8:81219882..81219958hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14385157
SamplesNA19240
Known Genes
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)nsv3187556
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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