A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241110



Internal ID22374878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114104040..114104109hg38UCSC Ensembl
chr3:113822887..113822956hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14434612
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsDeletion variant involving MER satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241110
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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