A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547647



Internal ID22416612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:65676355..65676355hg38UCSC Ensembl
chr11:65443826..65443826hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14373817
SamplesNA19240
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)nsv3547647
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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