A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14462868



Internal ID22215405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:150589727..150589727hg38UCSC Ensembl
chr6:150910863..150910863hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520412
Supporting Variants
SamplesHG00733
Known Genes
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)nssv14462868
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