A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14402550



Internal ID22318642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:20225560..20225560hg38UCSC Ensembl
chr9:20225558..20225558hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3552193
Supporting Variants
SamplesNA19240
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)nssv14402550
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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