A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14404248



Internal ID22324241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:118634375..118638772hg38UCSC Ensembl
chr9:121396653..121401050hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg384398
hg194398
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240815
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion variant involving MER satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14404248
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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