A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14458649



Internal ID22212576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:87402541..87402541hg38UCSC Ensembl
chr9:90017456..90017456hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3553817
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)nssv14458649
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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