A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540401



Internal ID22409543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73485339..73485339hg38UCSC Ensembl
chr6:74195062..74195062hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14426012
SamplesHG00514
Known GenesMTO1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3540401
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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