A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558802



Internal ID22427607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:15726132..15726132hg38UCSC Ensembl
chr6:15726363..15726363hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14459639
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3558802
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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