A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14428227



Internal ID22169408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138650777..138650777hg38UCSC Ensembl
chr7:138335522..138335522hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381271
hg191271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524665
Supporting Variants
SamplesHG00514
Known GenesSVOPL
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14428227
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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