A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547967



Internal ID22416928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:375200..375200hg38UCSC Ensembl
chr11:375200..375200hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38731
hg19731
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14376679
SamplesNA19240
Known GenesB4GALNT4
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)nsv3547967
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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