A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14428805



Internal ID22170200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:84797772..84797772hg38UCSC Ensembl
chr9:87412687..87412687hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3552884
Supporting Variants
SamplesHG00514
Known GenesNTRK2
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)nssv14428805
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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