A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14396869



Internal ID22305236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18143294..18143294hg38UCSC Ensembl
chr22:18626061..18626061hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg385903
hg195903
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3547671
Supporting Variants
SamplesNA19240
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)nssv14396869
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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