A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547838



Internal ID22416803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114874619..114874619hg38UCSC Ensembl
chr12:115312424..115312424hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14375690
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)nsv3547838
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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