A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524102



Internal ID22393531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121075399..121075399hg38UCSC Ensembl
chr1:149742302..149742302hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14441264
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3524102
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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