A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3273446



Internal ID22377652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:15611579..15611657hg38UCSC Ensembl
chr2:15751703..15751781hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14432575
SamplesHG00514
Known GenesDDX1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3273446
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