A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3189964



Internal ID22341037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227398796..227398896hg38UCSC Ensembl
chr1:227586497..227586597hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14461026
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a Alu.Moasic mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3189964
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer