A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250110



Internal ID22377450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110690419..110690558hg38UCSC Ensembl
chr1:111233041..111233180hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14431522
SamplesHG00514
Known Genes
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)nsv3250110
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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