A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14461782



Internal ID22214361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:79934074..79934074hg38UCSC Ensembl
chr9:82548989..82548989hg19UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3554783
Supporting Variants
SamplesHG00733
Known Genes
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)nssv14461782
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