A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285286



Internal ID22383663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:6210534..6210734hg38UCSC Ensembl
chr10:6252497..6252697hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14410611
SamplesNA19240
Known GenesPFKFB3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3285286
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