A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548883



Internal ID22417833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109106909..109106909hg38UCSC Ensembl
chr12:109544714..109544714hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14381612
SamplesNA19240
Known GenesUNG
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)nsv3548883
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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