A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14449555



Internal ID22244844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:64012554..64012554hg38UCSC Ensembl
chr20:62643907..62643907hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3553331
Supporting Variants
SamplesHG00733
Known GenesPRPF6
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)nssv14449555
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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