A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14439870



Internal ID22236477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113453176..113453240hg38UCSC Ensembl
chr9:116215456..116215520hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3283814
Supporting Variants
SamplesHG00733
Known GenesRGS3
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)nssv14439870
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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