A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547659



Internal ID22416624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:111621615..111621615hg38UCSC Ensembl
chr13:112273962..112273962hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38659
hg19659
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14417430, nssv14376388, nssv14445368
SamplesNA19240, HG00733, HG00514
Known Genes
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)nsv3547659
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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