A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283357



Internal ID22381700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:121092443..121092521hg38UCSC Ensembl
chr9:123854721..123854799hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14388580
SamplesNA19240
Known GenesCNTRL
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)nsv3283357
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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