A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286095



Internal ID22384482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49498387..49498457hg38UCSC Ensembl
chr13:50072523..50072593hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14401390
SamplesNA19240
Known GenesPHF11
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)nsv3286095
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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