A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244718



Internal ID22375937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:106445405..106445477hg38UCSC Ensembl
chr7:106085851..106085923hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14378168
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244718
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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