A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14460075



Internal ID22212628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:158318252..158318369hg38UCSC Ensembl
chr4:159239404..159239521hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3174858
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14460075
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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