A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14457167



Internal ID22251283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:109781773..109781773hg38UCSC Ensembl
chr6:110102976..110102976hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522157
Supporting Variants
SamplesHG00733
Known GenesFIG4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14457167
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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