A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540919



Internal ID22410043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99589047..99589047hg38UCSC Ensembl
chr4:100510204..100510204hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14424433
SamplesHG00514
Known GenesMTTP
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)nsv3540919
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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