A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549971



Internal ID22418908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:89765643..89765643hg38UCSC Ensembl
chr15:90308874..90308874hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14376117
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)nsv3549971
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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