A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546148



Internal ID22415146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:90233242..90233242hg38UCSC Ensembl
chr8:91245470..91245470hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38485
hg19485
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14402111
SamplesNA19240
Known GenesLINC00534
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)nsv3546148
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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