A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14450983



Internal ID22246084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44213605..44213605hg38UCSC Ensembl
chr22:44609485..44609485hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3549547
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)nssv14450983
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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