A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287870



Internal ID22386278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53328538..53328611hg38UCSC Ensembl
chr13:53902673..53902746hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14427065
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3287870
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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