A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14428966



Internal ID22170458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:126065533..126065533hg38UCSC Ensembl
chr9:128827812..128827812hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3556076
Supporting Variants
SamplesHG00514
Known Genes
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)nssv14428966
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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