A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440939



Internal ID22230474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37982033..37982033hg38UCSC Ensembl
chr1:38447705..38447705hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520189
Supporting Variants
SamplesHG00733
Known GenesSF3A3
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)nssv14440939
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