A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243756



Internal ID22375663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:37381330..37381381hg38UCSC Ensembl
chr2:37608473..37608524hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14421182
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion variant involving LTR satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243756
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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