A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548711



Internal ID22417661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79146458..79146458hg38UCSC Ensembl
chr18:76906458..76906458hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38768
hg19768
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14447859
SamplesHG00733
Known GenesATP9B
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)nsv3548711
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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