A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248817



Internal ID22377099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:66054100..66054151hg38UCSC Ensembl
chr9:42467172..42467223hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14428737
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion variant involving HSAT satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248817
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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