A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546193



Internal ID22415190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:75708863..75708863hg38UCSC Ensembl
chrX:74928698..74928698hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14404011, nssv14430786
SamplesNA19240, HG00514
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)nsv3546193
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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