A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3550664



Internal ID22419586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:98041889..98041889hg38UCSC Ensembl
chr15:98585118..98585118hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14417730
SamplesHG00514
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)nsv3550664
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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