A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547904



Internal ID22416867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30623805..30623805hg38UCSC Ensembl
chr22:31019792..31019792hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14451227
SamplesHG00733
Known GenesTCN2
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)nsv3547904
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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