A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288695



Internal ID22387110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39315729..39315787hg38UCSC Ensembl
chr13:39889866..39889924hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14400797
SamplesNA19240
Known Genes
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)nsv3288695
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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