A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286037



Internal ID22384423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:11885396..11885473hg38UCSC Ensembl
chr10:11927395..11927472hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14411040, nssv14454707
SamplesNA19240, HG00733
Known GenesPROSER2-AS1
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)nsv3286037
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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