A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284147



Internal ID22382506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:88652384..88652479hg38UCSC Ensembl
chr15:89195615..89195710hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14405393
SamplesNA19240
Known GenesISG20
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)nsv3284147
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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