A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3552863



Internal ID22421755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:111986330..111986330hg38UCSC Ensembl
chrX:111229558..111229558hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg386059
hg196059
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14460728
SamplesHG00733
Known GenesTRPC5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1HS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3552863
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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