A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247083



Internal ID22376612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:38716130..38716270hg38UCSC Ensembl
chr15:39008331..39008471hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14430252
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsDeletion variant involving LTR satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247083
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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