A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3298729



Internal ID22388863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12979966..12980336hg38UCSC Ensembl
chr18:12979965..12980335hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38371
hg19371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14431853
SamplesHG00514
Known GenesSEH1L
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)nsv3298729
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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