A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284554



Internal ID22382919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:109665956..109666016hg38UCSC Ensembl
chr13:110318303..110318363hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2436n152
Supporting Variantsnssv14404158, nssv14456117
SamplesNA19240, HG00733
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)nsv3284554
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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