A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235848



Internal ID22373411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:79213506..79213716hg38UCSC Ensembl
chr15:79505848..79506058hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14405368
SamplesNA19240
Known GenesLOC729911
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235848
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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