A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557795



Internal ID22426600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:32645669..32645669hg38UCSC Ensembl
chr6:32613446..32613446hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38411
hg19411
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14399238
SamplesNA19240
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)nsv3557795
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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