A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553449



Internal ID22422330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69367794..69367794hg38UCSC Ensembl
chr9:71982710..71982710hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14428753
SamplesHG00514
Known GenesFAM189A2
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)nsv3553449
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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