A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14458930



Internal ID22252715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133460462..133460462hg38UCSC Ensembl
chr9:136325584..136325584hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3545948
Supporting Variants
SamplesHG00733
Known GenesCACFD1
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)nssv14458930
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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