A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3552031



Internal ID22420935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:8978448..8978448hg38UCSC Ensembl
chrX:8946489..8946489hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14464813, nssv14403933, nssv14429058
SamplesNA19240, HG00733, 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)nsv3552031
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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