A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286288



Internal ID22384677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:25371357..25371411hg38UCSC Ensembl
chr13:25945495..25945549hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14426370
SamplesHG00514
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)nsv3286288
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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