A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14464652



Internal ID22228369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143861811..143861811hg38UCSC Ensembl
chr6:144182948..144182948hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523756
Supporting Variants
SamplesHG00733
Known GenesLTV1
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)nssv14464652
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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