A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548571



Internal ID22417524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165037525..165037525hg38UCSC Ensembl
chr2:165894035..165894035hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14420351
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1P mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3548571
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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