A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555611



Internal ID22424450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30772629..30772629hg38UCSC Ensembl
chrX:30790746..30790746hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg382691
hg192691
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429101, nssv14456666
SamplesHG00733, HG00514
Known Genes
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)nsv3555611
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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