A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14452559



Internal ID22247446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168835647..168835647hg38UCSC Ensembl
chr4:169756798..169756798hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523804
Supporting Variants
SamplesHG00733
Known GenesPALLD
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)nssv14452559
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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