A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395741



Internal ID22297516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37227454..37227454hg38UCSC Ensembl
chr22:37623494..37623494hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38626
hg19626
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3547163
Supporting Variants
SamplesNA19240
Known GenesRAC2
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)nssv14395741
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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