A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14428753



Internal ID22170127
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 StatusS
Merged Variantsnsv3553449
Supporting Variants
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)nssv14428753
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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