A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547048



Internal ID22416026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:6544393..6544393hg38UCSC Ensembl
chr18:6544392..6544392hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14418806, nssv14446955
SamplesHG00733, HG00514
Known GenesC18orf64
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)nsv3547048
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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