A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3279157



Internal ID22377928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6355639..6355720hg38UCSC Ensembl
chr19:6355650..6355731hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14461873
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3279157
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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