A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14428469



Internal ID22169734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42347432..42347432hg38UCSC Ensembl
chr8:42204950..42204950hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3538917
Supporting Variants
SamplesHG00514
Known GenesPOLB
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14428469
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