A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555852



Internal ID22424685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32331047..32331047hg38UCSC Ensembl
chr22:32727034..32727034hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14396160, nssv14421809
SamplesNA19240, HG00514
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)nsv3555852
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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