A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14449208



Internal ID22244548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26278968..26278968hg38UCSC Ensembl
chr22:26674934..26674934hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3547795
Supporting Variants
SamplesHG00733
Known GenesSEZ6L
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)nssv14449208
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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