A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14452021



Internal ID22246985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:188180797..188180797hg38UCSC Ensembl
chr3:187898585..187898585hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520047
Supporting Variants
SamplesHG00733
Known GenesFLJ42393, LPP
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)nssv14452021
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer