A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241896



Internal ID22375101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30187626..30187864hg38UCSC Ensembl
chr2:30410492..30410730hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14432991
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241896
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