A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555571



Internal ID22424413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134138440..134138440hg38UCSC Ensembl
chr11:134008335..134008335hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14415658
SamplesHG00514
Known GenesJAM3
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)nsv3555571
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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