A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548388



Internal ID22417345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48178899..48178899hg38UCSC Ensembl
chr22:48574711..48574711hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38485
hg19485
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14423367
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3548388
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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